Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dystrophia myotonica-protein kinase
Synonyms:
Dm15,  DM

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dmpk mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dmpk by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dmpk by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myopathy, Myofibrillar, 4
Cardiomyopathy, Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnorma... OMIM:609452
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Ankle weakness, He... ORPHA:98912
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Mildly elevated creatine k... OMIM:617030
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Abnormal circulating creatine kinase concentration, Intrinsic hand muscle... ORPHA:178400
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Progr... ORPHA:399103
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, Progressive distal muscle weakness, Multiple joint contracture... ORPHA:98911
Myopathy, Distal, 4
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... OMIM:614065
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... OMIM:310300
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Desminopathy
Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Fatigab... ORPHA:98909
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... OMIM:181350
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb muscle weakness, Mildly elevated creatine kinase, Distal upper... ORPHA:603
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir... OMIM:605820
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva... OMIM:609115
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Type 1 muscl... OMIM:617336
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:611615
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Elevated circulating cr... OMIM:609273
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy, Elevated circulating creatine kinase ... OMIM:609500
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Rhabdomyolysis, Distal lower limb mus... ORPHA:399096
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Congenital Myopathy 10B, Mild Variant
Increased variability in muscle fiber diameter, Neck muscle weakness, Limb muscle weakness, Type ... OMIM:620249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:618848
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Proximal muscle weakness, Ele... OMIM:609524
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... OMIM:618940
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... OMIM:608807
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Mildly elevated creatine kinase, Progressive dist... ORPHA:399086
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Inclusion Body Myositis
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... ORPHA:98902
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Myopathy, Vacuolar, With Casq1 Aggregates
Proximal muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakne... OMIM:616231
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Neck muscle weakness, Limb muscle weakness, Ragged-red musc... OMIM:500002
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Elevated circulating creatine kinase co... OMIM:611588
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Congestive heart failure, Muscl... OMIM:618654
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co... OMIM:616471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Danon Disease
Limb muscle weakness, Proximal muscle weakness, Skeletal muscle autophagosome accumulation, Hyper... OMIM:300257
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... OMIM:302045
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Myopathy, Distal, With Anterior Tibial Onset
Proximal muscle weakness, Myopathy, Elevated circulating creatine kinase concentration OMIM:606768
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... ORPHA:663
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Prox... ORPHA:98896
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Carnitine Deficiency, Myopathic
Decreased circulating carnitine concentration, Reduced muscle carnitine level, Myopathy OMIM:212160
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... ORPHA:254361
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, Extremely elevated creatine kinase, Mild... ORPHA:171445
Rigid Spine Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Neck muscle weakness, Hamstring contractures,... ORPHA:97244
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Upper li... ORPHA:171442
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... OMIM:619024
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Third degree atrioventricular block, Skeletal muscle atroph... ORPHA:480
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic card... OMIM:612158
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Distal muscle weakness OMIM:604454
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent... ORPHA:270
Atrial Standstill
Atrial standstill, Muscular dystrophy, Skeletal muscle atrophy, Abnormal P wave, Cardiomyopathy, ... ORPHA:1344
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Cardiomyopathy, Supraventricular tachycardia, Myopathy, Elevated circulating creatine kinase conc... OMIM:255100
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs... ORPHA:1878
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... OMIM:160565
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Increased serum pyruvate, Ragged-red muscle fibers, Myopathy OMIM:545000
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Progressive distal... ORPHA:399081
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98855
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction, Left ventricular noncompaction cardiomy... OMIM:604169
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m... OMIM:600334
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Fatig... ORPHA:424107
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Quadriceps musc... OMIM:620285
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... OMIM:614302
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Neck muscle weakness, Limb m... OMIM:610687
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... OMIM:613204
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98863
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Elevated circulating cre... OMIM:151800
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Respirator... OMIM:300580
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Muscular Dystrophy, Becker Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentrat... OMIM:300376
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop... OMIM:609284
Multifocal Motor Neuropathy
Progressive muscle weakness, Progressive distal muscle weakness, Limb muscle weakness, Weakness o... ORPHA:641
Oculopharyngeal Muscular Dystrophy 1
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Elevated circulating creati... OMIM:164300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, Progres... OMIM:609286
Bethlem Muscular Dystrophy
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... ORPHA:610
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy OMIM:208100
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy, Elevated circulating creatine kinase concentration ORPHA:88635
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Myasthenic Syndrome, Congenital, 5
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Type 1 muscle fiber predominance, ... OMIM:603034
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... OMIM:609283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concent... OMIM:611307
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... ORPHA:2596
Oculopharyngodistal Myopathy
Ophthalmoparesis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Dis... ORPHA:98897
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... OMIM:619216
Myopathy, Myofibrillar, 6
Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Myofibrillar myopathy... OMIM:612954
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red m... ORPHA:353327
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:601493
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Elevated circulating creatine ... OMIM:616209
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Muscle weakness, Myopathy OMIM:616314
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... OMIM:619477
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618992
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Left ventricular hypertrophy, Prolonged PR interval OMIM:108900
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Mildly ele... OMIM:610099
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Elevated circulating cr... ORPHA:119
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb... ORPHA:171439
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Myopathy, Ventricular preexcitation ORPHA:104
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... OMIM:160500
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... OMIM:160150
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventricular tachycardia, Scapular ... OMIM:613507
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy OMIM:613158
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy, Elevated circulating creatine kinase concentration OMIM:160570
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Central Core Disease
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... ORPHA:597
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Ele... OMIM:602541
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... ORPHA:169186
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Axial muscle weakness, Arrhythmia, P... ORPHA:157973
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... ORPHA:206559
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Limb muscle weakness, Generalized muscle weakness... OMIM:256030
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Nemaline Myopathy 8
Nemaline bodies, Ophthalmoparesis, Myofibrillar myopathy, Flexion contracture, Facial palsy, Musc... OMIM:615348
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration OMIM:607091
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Skeletal muscle atrophy, Myopathy, Generalized muscle weakness, Weakness of fac... ORPHA:254875
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne... OMIM:619790
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Arterial rupture, Myopathy, Elevated circulating creatine kinase concent... ORPHA:300179
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Cardiomyopat... OMIM:613752
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, E... OMIM:248800
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ophthalmoparesis, Limb muscle weakness, Fatigable weakness, Myopathy, Bulbar palsy, Type 2 muscle... OMIM:605809
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Late-onset distal muscle weakness, Dilated cardiomyopathy, Mildly elevated creat... OMIM:161800
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Left ventricular h... OMIM:540000
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... ORPHA:254864
Nathalie Syndrome
Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Upper limb muscle weakness, Decreased muscle glycogen content, Decreased muscle mass, Shoulder gi... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... OMIM:610542
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mildly elevated creat... ORPHA:397744
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Skeletal muscle atrophy, Myopathy ORPHA:2597
Acetyl-Coa Carboxylase-Alpha Deficiency
Myopathy OMIM:613933
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lip... OMIM:615980
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Myopathy, Progressive external ophthalmoplegia, Limb-girdle muscle w... ORPHA:352470
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia ORPHA:366
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Elevated circulating cre... OMIM:614399
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Rhabdomyolysis, Elevated cir... OMIM:212138
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Tricuspid regurgitation, Type 1 muscle fiber pred... OMIM:620161
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Flexion contracture, Myopathy, Generalized amyotrophy OMIM:618323
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Limb muscle weakness, Elevated circulating creatine kinase concentration, P... OMIM:610131
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness... OMIM:608627
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy... ORPHA:238329
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... OMIM:619040
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E... OMIM:613530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Proximal muscle weakness OMIM:551500
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird... ORPHA:263494
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Generalized muscle weakness, ... OMIM:255310
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Ophthalmoparesis, Shoulder girdle muscle weakness, Myopathy, Elevated circulating creatine kinase... OMIM:615156
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... OMIM:617069
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Muscular Dystrophy, Congenital, With Or Without Seizures
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Progressive muscle ... OMIM:620166
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Elevated circulating creati... ORPHA:368
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal atrial fibrillation... OMIM:613205
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... ORPHA:34515
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinase concent... OMIM:123320
Infantile Refsum Disease
Cardiomyopathy, Elevated circulating phytanic acid concentration, Arrhythmia, Progressive muscle ... ORPHA:772
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Autosomal Recessive Progressive External Ophthalmoplegia
External ophthalmoplegia, Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red ... ORPHA:254886
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Neck muscle weakness, Increased muscle lipid conte... OMIM:500009
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Generalized limb muscle atrophy, Ragged-red muscle ... OMIM:600462
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Glycogen Storage Disease Iii
Distal amyotrophy, Cardiomyopathy, Hyperlipidemia, Myopathy, Elevated circulating creatine kinase... OMIM:232400
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Eleva... ORPHA:352447
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, T... OMIM:614807
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle... OMIM:616816
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia, Episodic flaccid weakness, Muscle weakness, Myopathy OMIM:170400
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Elevated circu... OMIM:603511
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Total ophthalmoplegia, L... OMIM:157640
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Cardiomyopathy, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder ... ORPHA:98908
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Developmental And Epileptic Encephalopathy 101
Poor head control, Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Cap Myopathy
Increased variability in muscle fiber diameter, Sinus tachycardia, Lower limb muscle weakness, Fa... ORPHA:171881
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Abnormal circulating creatine kinase concentr... ORPHA:369840
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Congenital Myopathy 16
Proximal muscle weakness, Axial muscle weakness, Scapular winging, Flexion contracture, Distal mu... OMIM:618524
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Malignant Hyperthermia, Susceptibility To, 2
Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind... OMIM:154275
Postsynaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoul... ORPHA:98913
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Elev... OMIM:617070
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Myopathy, Spinal muscular atrophy, Elevated circulating creatine kin... OMIM:301830
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Mildly elevated creatine kinase, Facial diplegia, Foot dor... ORPHA:329478
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Palpit... OMIM:255125
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Ophthalmoparesis, Second degree atrioventricular block, Lower limb muscle w... ORPHA:79102
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Malignant Hyperthermia, Susceptibility To, 3
Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind... OMIM:154276
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Muscle weakness, Myopathy OMIM:615511
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Kearns-Sayre Syndrome
Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers, Progressive extern... OMIM:530000
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Hyperkalemic Periodic Paralysis
Ophthalmoparesis, Skeletal muscle atrophy, Congestive heart failure, Episodic flaccid weakness, M... ORPHA:682
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo... ORPHA:171436
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Ragged-red muscle fibers, Muscle weakness, Congestive heart failure OMIM:616794
Isolated Glycerol Kinase Deficiency
Myopathy, Elevated circulating creatine kinase concentration ORPHA:408
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Elevated circulating creatine ki... OMIM:609560
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Mildly elevated creatine kinase, Reduced muscle fiber alpha dystroglycan, Fac... ORPHA:370980
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Extremely elevated cre... ORPHA:99939
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Gowers sign, Proximal muscle weakness, Axial muscle w... OMIM:255200
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... OMIM:607426
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Limb muscle weakne... ORPHA:329336
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:401768
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Congestive heart failure, Myopathy, Wolff-Parkinson-White syndrome OMIM:618234
Sengers Syndrome
Hypertrophic cardiomyopathy, Myopathy, Generalized muscle weakness, Pulmonary arterial hypertensi... OMIM:212350
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Muscle weakness, Myopathy, Skeletal muscle hypertrophy ORPHA:2349
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Myopathy ORPHA:26792
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulat... OMIM:615418
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Flexion contracture, Myopathy OMIM:618237
Atrophoderma Vermiculata
Heart block ORPHA:79100
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Elevated circulating creatine kinase ... OMIM:607855
Myotonic Dystrophy 1
Atrial flutter, Facial diplegia, First degree atrioventricular block, Atrial fibrillation, Muscle... OMIM:160900
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Gene... ORPHA:171433
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Exer... ORPHA:26793
Dk1-Cdg
Progressive muscle weakness, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure ORPHA:91131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Elevated circulatin... OMIM:608840
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... ORPHA:52430
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Abnormal circulating creatine... OMIM:615959
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Hypophosphatasia, Childhood
Elevated plasma pyrophosphate, Myopathy OMIM:241510
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Congestive heart failure, Hypertro... OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Myopathy OMIM:618236
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy, Ophthalmoplegia OMIM:125250
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, External ophthalmoplegia, Distal amyotrophy, Skeletal muscl... ORPHA:3208
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... OMIM:606612
Glycogen Storage Disease X
Rhabdomyolysis, Myopathy, Elevated circulating creatine kinase concentration OMIM:261670
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine... ORPHA:228305
Ataxia-Telangiectasia-Like Disorder 2
Cutaneous telangiectasia, Congenital diaphragmatic hernia, Conjunctival telangiectasia, Progressi... OMIM:615919
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Mildly e... OMIM:258450
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hyperammonemia, Myopathy, Elevated circulating creatine kinase concentra... ORPHA:42
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Axial muscle weakness, Flexion contrac... ORPHA:178148
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Hypoglycosylation ... ORPHA:272
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c... ORPHA:99901
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Episodic flaccid weakness, Respiratory paralysis, Increased intramyocellula... ORPHA:681
Timothy Syndrome
Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Ventricular tachycardia, B... OMIM:601005
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Hypoplasia of the musculature, Weakness of muscles of respiration, Sho... ORPHA:2020
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... ORPHA:596
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Progressive muscle weakness, Respira... OMIM:615512
Familial Isolated Hypoparathyroidism
Arrhythmia, Hypocalcemia, Myopathy ORPHA:2238
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... ORPHA:398124
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Synaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Hand muscle weakness, Neck muscle weakness, Type 1 mus... ORPHA:98915
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath... OMIM:619424
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Axial Osteomalacia
Proximal muscle weakness, Myopathy, Elevated circulating creatine kinase concentration OMIM:109130
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... OMIM:164310
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Congestive heart failur... OMIM:609015
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Myopathy OMIM:201550
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Muscle weakness, Cardiomyopathy, Congestive heart fai... OMIM:310200
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Progressive proximal muscle weakness, Myopathy ORPHA:369847
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Cardiomyopathy, Myopathy OMIM:616549
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina... OMIM:254090
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Rhabdomyolysis, Myopathy, Reduced haptoglobin level, Elev... OMIM:300842
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Neutral Lipid Storage Disease With Ichthyosis
Cardiomyopathy, Shoulder girdle muscle weakness, Abnormal circulating creatine kinase concentrati... ORPHA:98907
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ... OMIM:115195
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Neck muscle weakness, Limb muscle we... OMIM:617258
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Right ventricular failure, Tricusp... ORPHA:100093
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, In... ORPHA:324604
Autosomal Dominant Optic Atrophy Plus Syndrome
Progressive external ophthalmoplegia, Cardiomyopathy, Limb-girdle muscle weakness, Myopathy ORPHA:1215
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase... OMIM:616239
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Prog... ORPHA:79240
Lyme Disease
Arrhythmia, Muscle weakness, Atrioventricular block ORPHA:91546
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exter... OMIM:607459
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Cardiomyopathy, Congestiv... OMIM:616866
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, Diaphragmatic weakness, EMG: myopathic abnormalities, Elevated circu... OMIM:620326
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, Rhabdomyolysis, ST segment depression, Syncope, ... ORPHA:358
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Generalized muscle weakness, Gowers sign, Fatigable weakness of swall... ORPHA:365
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ophthalmoparesis, Skeletal muscle atrophy, Lower limb muscle weakness, Ragged-red muscle fibers, ... OMIM:616479
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Spinocerebellar Ataxia With Epilepsy
Ophthalmoparesis, Hyperalaninemia, Myopathy ORPHA:254881
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Scleromyxedema
Transient ischemic attack, Abnormal skeletal muscle morphology, Myopathy, Elevated circulating cr... ORPHA:167635
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Congenital-Onset Steinert Myotonic Dystrophy
Facial hypotonia, Bundle branch block, First degree atrioventricular block ORPHA:589821
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Muscle weakness, Myopathy OMIM:300653
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Prog... ORPHA:264580
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Hyperuricemia, Hypertriglyceride... ORPHA:79083
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Pr... ORPHA:746
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Ophthalmoparesis, Muscle flaccidity, Oculomotor nerve palsy, Fatigable weakness, Myopathy, Ophtha... ORPHA:257
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block ORPHA:392
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness OMIM:300076
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Leber Optic Atrophy
Arrhythmia, Myopathy OMIM:535000
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myopathy, Cardiac ar... OMIM:604377
Arts Syndrome
Progressive muscle weakness OMIM:301835
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Distal amyotrophy, Skeletal muscle atrophy, Dilated cardiomyopa... ORPHA:273
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb hypertonia, Abnormal EKG, Lower limb muscle weakness, Generalized amyotrophy ORPHA:1177
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Muscle weakness, Myopathy ORPHA:166002
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Left ventri... OMIM:615474
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:261740
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Hypertriglyceridemia, Abnormalit... ORPHA:2348
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Rhabdomyolysis, Muscle weakness, Myopathy ORPHA:713
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... OMIM:619461
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Axial muscle weakness, Proximal muscle weakness, ... OMIM:616720
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Palpitations, Weakness of facial musculature, Elevated circulatin... OMIM:602668
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:559
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Porta... ORPHA:367
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Muscle weakness, Limb muscle weakness, Shortened PR interval, El... OMIM:232300
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Myopathy, Hypertriglyceridemia ORPHA:363400
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Malignant Hyperthermia Of Anesthesia
Necrotizing myopathy, Hyperphosphatemia, Exercise-induced rhabdomyolysis, High-output congestive ... ORPHA:423
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Increased total bilirubin, Hyperuricemia, Elevate... OMIM:232800
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Abnormal circulating lipid concentration, Diastasis recti, Progressive m... ORPHA:488632
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Progressive externa... OMIM:617713
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypomagnesemia, Hypophosphatemic ricke... OMIM:619743
Cystinosis
Portal hypertension, Myopathy, Hypokalemia, Hypophosphatemia, Muscle weakness ORPHA:213
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Abnormality of the shoulder girdle musculature, Palpitations, Hy... ORPHA:565612
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Neck muscle weakness, Increased muscle lipid content, Myopathy, Elevated circulat... OMIM:610717
Refsum Disease
Skeletal muscle atrophy, Cardiomyopathy, Heart block ORPHA:773
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... ORPHA:268
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine... ORPHA:157
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Fabry Disease
Atrioventricular block, Abnormal circulating lipid concentration, Congestive heart failure, Hyper... ORPHA:324
Autosomal Dominant Progressive External Ophthalmoplegia
External ophthalmoplegia, Ophthalmoparesis, Dilated cardiomyopathy, Quadriceps muscle weakness, S... ORPHA:254892
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Ankle weakness, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, A... ORPHA:600
Hydrops, Lactic Acidosis, And Sideroblastic Anemia