Gene: Myh4 MGI:1339713

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myosin, heavy polypeptide 4, skeletal muscle
Synonyms:
MyHC-IIb,  MHC2B,  Myhsf,  MM,  MYH-2B,  Minmus,  Minimsc

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 Myh4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Myh4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Spinal muscular atrophy, Proximal lower limb amyotrophy, Proximal muscle weakness in lower limbs,... OMIM:158600
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Clumsiness, Peroneal muscle atrophy, Increased muscle lipid content... ORPHA:609
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Gait disturbance, ... OMIM:605820
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 muscle fiber predom... OMIM:618655
Welander Distal Myopathy
Steppage gait, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, F... OMIM:618848
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Clumsines... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Proximal muscle weakness, Rimmed va... ORPHA:611
Striatonigral Degeneration, Infantile, Mitochondrial
Frequent falls, Difficulty walking, Babinski sign, Ragged-red muscle fibers, Paroxysmal choreoath... OMIM:500003
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Difficulty walking, Distal amyotrophy, Vocal cord paralysis OMIM:158580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Clumsiness, Proximal amyotrophy, Difficulty walking, Muscular dystrophy, Flexio... OMIM:253600
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Difficulty walking, Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness ... OMIM:601954
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscle weakness, Scapular winging, ... ORPHA:602
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, External ophthalmoplegia, Increased endomysial connective tissue, D... OMIM:618940
Inclusion Body Myositis
Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Inability to walk, Quadriceps muscle weakness, Triceps weakness, Proximal muscle weakness in lowe... ORPHA:482601
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Gait disturbance, Proximal muscle weakness in lower limbs, Waddling gait, Myopathy, Increased var... ORPHA:1878
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Waddling gait, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... OMIM:609524
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Proximal muscle weakness, Flexion contracture, Respiratory insufficiency due to muscle weakness, ... OMIM:300717
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Distal lower limb muscle weakness, Paralysis OMIM:608634
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Myopathy, Myofibrillar, 3
Progressive distal muscle weakness, Achilles tendon contracture, Proximal muscle weakness, Distal... OMIM:609200
Nemaline Myopathy 6
Myopathy, Gait disturbance, Nemaline bodies, Limb muscle weakness OMIM:609273
Tibial Muscular Dystrophy, Tardive
Steppage gait, Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Facial diplegia, Progressive distal muscle we... ORPHA:399058
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Miyoshi Myopathy
Tibialis atrophy, Proximal amyotrophy, Difficulty walking, Loss of ability to walk, Toe walking, ... ORPHA:45448
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Centrally nuc... ORPHA:401768
Neuronopathy, Distal Hereditary Motor, Type Va
Thenar muscle weakness, Thenar muscle atrophy, Distal muscle weakness, Distal amyotrophy, Upper l... OMIM:600794
Muscular Dystrophy, Congenital, Merosin-Positive
Neck muscle weakness, Congenital muscular dystrophy, Flexion contracture, Respiratory insufficien... OMIM:609456
Spinal Muscular Atrophy, Infantile, James Type
Muscle weakness, Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal muscle weak... OMIM:619042
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Ataxia, ... OMIM:500002
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Facial palsy, G... ORPHA:219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Loss of ability to walk, Skeletal muscle fibrosis, Rimmed vacuo... ORPHA:34516
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, EMG: myopathic abnormalities, Tremor, Intrinsic hand muscle atrophy, Gait dist... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myositis, Calf muscle hypertrop... ORPHA:565899
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, T... OMIM:618823
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Proximal muscle weakness, Muscle fiber inclusion bodies, Rimmed v... OMIM:615424
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Toe walking, Lower limb musc... OMIM:254130
Neuronopathy, Distal Hereditary Motor, Type Iic
Distal upper limb muscle weakness, Lower limb muscle weakness, Distal muscle weakness, Distal low... OMIM:613376
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Gait disturbance, Abnormal pyramidal sign, Babinski sign, Skeletal muscle atr... ORPHA:357043
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle weakness, Thenar muscle atrophy, Distal muscle weakness, Distal amyotrophy, Upper l... OMIM:601472
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscle weakness, Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacem... OMIM:613204
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Muscle weakness, Spinal muscular atrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy OMIM:614881
Spastic Paraplegia 62, Autosomal Recessive
Difficulty walking, Lower limb spasticity, Spastic gait, Skeletal muscle atrophy, Babinski sign, ... OMIM:615681
Spastic Paraplegia 43, Autosomal Recessive
Spastic paraplegia, Gait disturbance, Distal amyotrophy, Knee flexion contracture, Babinski sign,... OMIM:615043
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle weakness, Internally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 mu... OMIM:618654
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Unsteady gait, Calf muscle pseudohypertrophy, Waddling gait, Redu... ORPHA:280333
Myopathy, Myofibrillar, 2
Neck muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency... OMIM:608810
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Fatigable weakness, Proximal muscle weakness OMIM:614750
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 muscle fiber predominanc... ORPHA:178145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Proximal muscle weakness, Muscle fiber splittin... OMIM:253601
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Clumsiness, Difficulty walking, Weak... ORPHA:399086
Polyglucosan Body Myopathy 2
Distal muscle weakness, Limb-girdle muscle weakness, Skeletal muscle atrophy OMIM:616199
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Autosomal Recessive Spastic Paraplegia Type 62
Difficulty walking, Spastic gait, Lower limb spasticity, Knee flexion contracture, Skeletal muscl... ORPHA:401785
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Muscle weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness, Gowers sign, Rimmed va... OMIM:612937
Hereditary Continuous Muscle Fiber Activity
Slurred speech, Ataxia, Type 1 muscle fiber predominance, Spastic gait, Congenital diaphragmatic ... ORPHA:972
Zebra Body Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Axial muscle weakness, Limb-girdle muscular d... ORPHA:97240
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness, Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Distal Myopathy, Tateyama Type
Neck muscle weakness, EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Int... ORPHA:488650
Distal Nebulin Myopathy
Slender build, EMG: myopathic abnormalities, Progressive distal muscle weakness, Weakness of the ... ORPHA:399103
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Muscle weakness, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Hand muscle atrophy, Facial palsy, Distal amyot... OMIM:607641
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Proximal muscle weakness, Abdominal wall muscle weakness, ... OMIM:618129
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscle weakness, Muscular dystrophy, Flexion contracture, Increased endomysial connective tissue,... OMIM:617072
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Progressive external ophthalmoplegia, Generalized muscle weakness, ... OMIM:609283
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Frequent falls, Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Wadd... OMIM:616924
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Difficulty walking, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakn... ORPHA:86812
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Difficulty walking, Contractures of the joints of the lower limbs, Paralysis, Skeletal ... OMIM:613710
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Muscle weakness, Distal amyotrophy, Distal muscle weakness, Skeletal muscle atrophy OMIM:614369
Nemaline Myopathy 7
Neck muscle weakness, Muscle weakness, Respiratory insufficiency due to muscle weakness, Nemaline... OMIM:610687
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Skeletal muscle atrophy, Calf ... OMIM:617760
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased intramyocellular lipid droplets, Spastic diplegia, Ataxia, Myoclonus, Babinsk... OMIM:619065
Myopathy, Distal, 3
EMG: myopathic abnormalities, Clumsiness, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles,... OMIM:610099
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Gait disturbance, Scissor gait, Skeletal muscle atrophy OMIM:615686
Myopathy, Distal, 1
Neck muscle weakness, Proximal muscle weakness, Type 1 muscle fiber predominance, Amyotrophy of a... OMIM:160500
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Scapuloperoneal weakness, Flexion contracture, Proximal muscle weakness, Rimmed... OMIM:300696
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, External ophthalmoplegia, C... ORPHA:598
Merrf
Myopathy, Ragged-red muscle fibers, Ataxia ORPHA:551
Benign Samaritan Congenital Myopathy
Fasciculations, Lethargy, Centrally nucleated skeletal muscle fibers, Internally nucleated skelet... ORPHA:324581
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Myositis
Myositis OMIM:160750
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Ataxia, Myoclonus, Myopathy, Spasticity OMIM:545000
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Pleoconial Myopathy With Salt Craving
Myopathy, Paralysis, Proximal amyotrophy OMIM:262900
Myopathy, Proximal, With Ophthalmoplegia
Neck muscle weakness, Scapular winging, Congenital contracture, Proximal muscle weakness, Distal ... OMIM:605637
Nemaline Myopathy 2
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Late-onset distal muscle weakne... OMIM:256030
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ophthalmoplegia, Rimmed vacuoles, Myopathy, Ragged-red muscle f... ORPHA:270
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Neck muscle weakness, Macroglossia, Muscle weakness, Increased... OMIM:500009
Spastic Paraplegia 42, Autosomal Dominant
Muscle weakness, Skeletal muscle atrophy OMIM:612539
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Neuropathy, Painful
Lower limb muscle weakness, Skeletal muscle atrophy OMIM:256870
Myopathy, Myosin Storage, Autosomal Recessive
Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Centrally nucleated skeletal musc... OMIM:255160
Myopathy, Tubular Aggregate, 1
External ophthalmoplegia, Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic han... OMIM:160565
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Decreased body weight, Type 1 fibers relatively... OMIM:300580
Distal Myotilinopathy
EMG: myopathic abnormalities, Difficulty walking, Loss of ability to walk in first decade, Abnorm... ORPHA:98911
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... OMIM:611705
Myasthenic Syndrome, Congenital, 23, Presynaptic
Neck muscle weakness, Calf muscle hypertrophy, Muscle weakness OMIM:618197
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal lower limb muscle weakness, Paralysis OMIM:158590
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Trice... ORPHA:437572
Autosomal Dominant Spastic Paraplegia Type 31
Hand muscle weakness, Proximal lower limb amyotrophy, Difficulty walking, Gait disturbance, Hyper... ORPHA:101011
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Muscular dystrophy, Loss of ability to walk, Centrally nucleated skeletal mus... OMIM:616812
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Skin rash, Scapular winging, Proximal muscle weakness in lower limb... ORPHA:206569
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Muscle weakness OMIM:261750
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Neck muscle weakness, Flexion contr... OMIM:609284
Myopathy, Distal, 4
Muscle weakness, Distal upper limb amyotrophy, Proximal muscle weakness, Distal lower limb amyotr... OMIM:614065
Nemaline Myopathy 4
Neck muscle weakness, Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Ne... OMIM:609285
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Difficulty walking, Flexion contrac... ORPHA:171442
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Progressive distal muscle weakness, Progressive muscle weakness, Au... OMIM:609452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased variability in muscle fib... ORPHA:353
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Proximal muscle weakness, Flexion contracture, Respiratory insufficiency due to muscle weakness, ... OMIM:300718
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Muscle weakness, Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylatio... OMIM:616052
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Waddling gait... ORPHA:34515
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Difficulty walking, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Limb-girdle musc... OMIM:613818
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Muscle weakness, Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Respiratory insufficiency due to muscle weakness,... ORPHA:424107
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Pelvic girdle muscle weakness, Waddling gait, Calf muscle hypertrophy, Myopat... ORPHA:119
Bethlem Myopathy 1
Camptodactyly of finger, Congenital muscular torticollis, Respiratory insufficiency due to muscle... OMIM:158810
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Distal amyotrophy, Dysmetria, Limb fascicu... OMIM:606183
Myasthenic Syndrome, Congenital, 14
Scapular winging, Flexion contracture, Fatigable weakness, Gowers sign, Ragged-red muscle fibers,... OMIM:616228
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Proximal muscle weakness, Distal muscle weakness, Progressive external ophthalmoplegia, Skeletal ... OMIM:617070
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Combined Oxidative Phosphorylation Deficiency 6
Muscle weakness, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Skel... OMIM:300816
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Respiratory insufficiency due to muscle weakness, Abnormal mitochondria in muscle tissue, Progres... ORPHA:663
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congenita, Flexion contractu... OMIM:618484
Marinesco-Sjogren Syndrome
Gait ataxia, Limb ataxia, Flexion contracture, Centrally nucleated skeletal muscle fibers, Ataxia... OMIM:248800
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscle weakness, Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion c... OMIM:607855
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Respiratory insufficiency due to muscle weakne... ORPHA:98902
Dpm3-Cdg
Muscle weakness, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Calf muscle ... ORPHA:263494
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Scapuloperoneal weakness, Foot dorsiflex... OMIM:181400
Nemaline Myopathy 5
Tremor, Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies,... OMIM:605355
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Severe X-Linked Mitochondrial Encephalomyopathy
Generalized muscle weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to muscle weakness, Pro... OMIM:255310
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Proximal muscle weakness OMIM:182980
Focal Myositis
Myositis ORPHA:48918
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Facial Onset Sensory And Motor Neuronopathy
Muscle weakness, Skeletal muscle atrophy ORPHA:85162
Myopathy, Spheroid Body
Muscle weakness, Proximal amyotrophy, Proximal muscle weakness, Distal muscle weakness, Skeletal ... OMIM:182920
Childhood-Onset Nemaline Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Slender build, Arthrogryposis multiplex conge... ORPHA:171439
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Increased intramyocellular lipid droplets, Abnormal pyramidal sign, Ataxia, Myoclonus OMIM:612016
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Waddling gait, Nemaline bodies, Facial palsy OMIM:617336
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Flexion contracture, Lower limb muscle weakness, Prox... OMIM:300695
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Impaired tandem gait, Lower limb spasticity, Myoclonus, Dysmetria, Type 2 muscle ... OMIM:619028
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle weakness, Distal am... OMIM:607088
Congenital Muscular Dystrophy, Ullrich Type
Muscle weakness, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomy... ORPHA:75840
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Myositis, Crohn's disease, Acne, Arthritis ORPHA:69126
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Periodic hypokalemic... ORPHA:681
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Distal muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness, Upper limb muscle weakness OMIM:607678
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Generalized muscle weakness, Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoplegia, In... OMIM:601462
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Neck muscle weakness, Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscle... OMIM:608930
Myopathy, Distal, With Anterior Tibial Onset
Distal muscle weakness, Myopathy, Distal amyotrophy OMIM:606768
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, G... ORPHA:169186
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... OMIM:167320
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Muscle weakness, External ophthalmoplegia, Interna... ORPHA:98905
Kearns-Sayre Syndrome
Hemiplegia/hemiparesis, Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy ORPHA:480
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Multiple joint contract... ORPHA:486815
Laing Early-Onset Distal Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicu... ORPHA:59135
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Gait disturbance, Ataxia, Myopathy, Spasticity OMIM:125250
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn... OMIM:603034
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Eosinophilic Fasciitis
Myositis, Muscular edema, Arthritis, Fasciitis ORPHA:3165
Nemaline Myopathy 8
Muscle weakness, Flexion contracture, Nemaline bodies, Facial palsy, Myofibrillar myopathy, Ophth... OMIM:615348
Nemaline Myopathy 10
Muscle weakness, Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficien... OMIM:616165
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Respiratory insufficiency due to muscle weakness, Generalized amyot... OMIM:609560
Nemaline Myopathy 3
Slender build, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Late-onset dista... OMIM:161800
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Neck muscle weakness, Muscular dystroph... ORPHA:610
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... OMIM:616470
Lethal Congenital Contracture Syndrome 7
Arthrogryposis multiplex congenita, Paralysis, Knee flexion contracture, Skeletal muscle atrophy,... OMIM:616286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
EMG: myopathic abnormalities, Muscular dystrophy, Proximal muscle weakness, Distal muscle weaknes... OMIM:608807
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the 5th finger... OMIM:617258
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Progressive distal muscle weakness, Lower limb muscle weakness, Pro... ORPHA:397744
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber... OMIM:616816
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Difficulty walking, Congenital muscular dystro... ORPHA:370980
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Difficulty walking, Chorea, Muscular dystrophy, Limb-girdle muscular dystrophy, W... ORPHA:369840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Flexion contracture, Proximal muscle weakness, Generalized muscle weakness, G... OMIM:613723
Autosomal Dominant Spastic Paraplegia Type 3
Gait disturbance, Toe walking, Lower limb hypertonia, Bradykinesia, Ankle clonus, Spastic gait, D... ORPHA:100984
Pontocerebellar Hypoplasia, Type 1C
Muscle weakness, Spinal muscular atrophy, Flexion contracture, Failure to thrive, Skeletal muscle... OMIM:616081
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscl... OMIM:608931
Neutral Lipid Storage Disease With Myopathy
Neck muscle weakness, Increased muscle lipid content, Proximal muscle weakness, Gowers sign, Myop... OMIM:610717
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Pr... ORPHA:1145
Spinal Muscular Atrophy, Type Iii
Muscle weakness, Spinal muscular atrophy, Skeletal muscle atrophy, Proximal muscle weakness OMIM:253400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Myopathy, Myofibrillar, 7
Muscle weakness, Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, A... OMIM:617114
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Waddling gait, Decreased cervical spine... OMIM:310300
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies, Failure to thrive OMIM:618246
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Muscle weakness, Skeletal muscle atrophy ORPHA:371
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Inability to walk, Scapular winging, Proximal amyotrophy, Difficulty walking, Limb-girdle muscula... ORPHA:206559
Combined Oxidative Phosphorylation Deficiency 49
Difficulty walking, Ragged-red muscle fibers OMIM:619024
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscle weakness, Type 2 musc... OMIM:254210
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Proteasome-Associated Autoinflammatory Syndrome 4
Panniculitis, Myositis, Flexion contracture, Skeletal muscle atrophy OMIM:619183
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Flexion contracture, Distal muscle weakness, Nemaline bodies, Distal amyotrophy, Facial palsy, Hy... OMIM:607684
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Difficulty walking, Centrally nucleated skeletal muscle fibers, Typ... ORPHA:169189
Myasthenic Syndrome, Congenital, 12
Neck muscle weakness, Proximal amyotrophy, Fatigable weakness, Facial palsy, Gowers sign, Ophthal... OMIM:610542
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Slender build, Congenital muscular dystrophy, Flexion contracture, Re... OMIM:254090
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Gait ataxia, Limb ataxia, Bradykinesia, Generalized amyotrophy, Fac... OMIM:258450
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Tremor, Scapular winging, Intrinsic hand muscle atrophy, Difficulty... ORPHA:329478
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Increased intramyocellular lipid droplets, Spastic paraparesis, Spa... OMIM:614487
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Respiratory insufficiency d... ORPHA:597
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Type 2 muscle fiber atrophy, ... OMIM:605809
Spinal Muscular Atrophy, Type Ii
Muscle weakness, Spinal muscular atrophy, Skeletal muscle atrophy OMIM:253550
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Muscle weakness, Macroglossia, Increased muscle lipid content,... ORPHA:254864
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Myoclonus, Babinski sign, Choreoat... OMIM:606777
Postsynaptic Congenital Myasthenic Syndromes
Muscle weakness, EMG: myopathic abnormalities, Fatigable weakness of respiratory muscles, Hip fle... ORPHA:98913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Gowers sign, Right ventricular hypertrophy, Calf muscle ... OMIM:253700
Muscular Dystrophy, Scapulohumeral
Muscle weakness, Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Muscle weakness, Congenital muscular dystrophy OMIM:254100
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Combined Oxidative Phosphorylation Deficiency 28
Muscle weakness, Ragged-red muscle fibers OMIM:616794
Cap Myopathy
Abnormal muscle fiber morphology, Fatiguable weakness of proximal limb muscles, Lower limb muscle... ORPHA:171881
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Neck muscle weakness, Proximal muscle weakness, Muscular dystrophy, Proximal amyotrophy OMIM:612998
Spinocerebellar Ataxia Type 3
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Prog... ORPHA:98757
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Hand muscle weakness, Scapular winging, Parkinsonism with favorable response t... ORPHA:254886
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... ORPHA:171433
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Fasciculations, Gait disturbance, Proximal amyotrophy OMIM:608030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Inability to walk, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Ataxia OMIM:615350
Classic Multiminicore Myopathy
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Multiple j... ORPHA:324604
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Progressive distal muscle weakness, Amyoplasia, Progre... OMIM:181405
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, F... ORPHA:536516
Distal Anoctaminopathy
Rhabdomyolysis, Proximal muscle weakness in upper limbs, Progressive muscle weakness, Distal lowe... ORPHA:399096
Miyoshi Muscular Dystrophy 3
Distal muscle weakness, Calf muscle hypertrophy, Muscular dystrophy, Quadriceps muscle atrophy OMIM:613319
Pyoderma Gangrenosum
Inflammation of the large intestine, Myositis, Rheumatoid arthritis, Pustule ORPHA:48104
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Distal amyotrophy, Generalized amyotrop... OMIM:617519
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Muscle weakness, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture... OMIM:616867
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Nemaline bodies, Akinesia, Increased variability in muscle fi... OMIM:619334
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Maculopapular exanthema, Conjunctivitis, Erysipelas, Oligoarthritis, Myositis OMIM:142680
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture OMIM:615368
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Muscle weakness, Skeletal muscle atrophy, Obesity OMIM:615418
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Difficulty walking, Vocal cord paresis, Limb muscle weakness, Skeletal muscle atrophy OMIM:614895
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscle weakness, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Proximal muscle wea... OMIM:615352
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Increased intramyocellular lipid droplets, Flexion contracture, Ataxia, Abnormal mitoch... OMIM:252011
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Skeletal muscle atrophy OMIM:205250
Spastic Paraplegia Type 7
Abnormal pyramidal sign, Lower limb hypertonia, Lower limb muscle weakness, Spastic gait, Slowed ... ORPHA:99013
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Fatigable weakness of respiratory muscles, F... ORPHA:171436
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Axial dystonia, Hypertonia, Toe walking, Spastic diplegia, Head titubation, Skeletal mu... ORPHA:300605
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Maculopapul... ORPHA:39812
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extra... ORPHA:71277
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Vocal cord paresis, Distal upper limb amyotrophy, Difficu... ORPHA:600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscle weakness, Muscular dystrophy, Gowers sign OMIM:616094
Isaac Syndrome
Muscle weakness, Calf muscle hypertrophy, Weight loss ORPHA:84142
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Hand muscle weakness, Hand tremor, Flexion contracture, Quadriceps muscle weakne... ORPHA:99947
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Gait ataxia, Rigidity, Parkinsonism with favorable response to dopa... OMIM:157640
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Ataxia, Distal lower limb muscle weakness, Distal amyotrophy, Babinski sign, Pr... OMIM:612020
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Whipple Disease
Pericarditis, Abnormal pyramidal sign, Uveitis, Ataxia, Myoclonus, Encephalitis, Myocarditis, Myo... ORPHA:3452
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Muscle weakness, Skeletal muscle atrophy OMIM:613954
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle weakness, EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rha... ORPHA:57
Oculopharyngodistal Myopathy
Abnormality of facial musculature, Vocal cord paresis, Abnormality of masseter muscle, Difficulty... ORPHA:98897
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Endocarditis, Increased inflammatory response, Gait disturbance, Hemiplegia/hemiparesi... ORPHA:183
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Limb muscle weakness, Skeletal muscle atrophy OMIM:612300
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Malar rash, Pustular rash, Skeletal muscle atrophy, Myositis OMIM:615934
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Loss of ability to walk, Blepharospasm, Oculomotor apraxia, Unsteady gait, Distal lower... ORPHA:240094
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Spastic paraparesis, Difficulty walking, Fiber type grouping, Thenar ... OMIM:500013
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Muscle weakness, Skeletal muscle atrophy OMIM:254950
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Absent muscle... ORPHA:258
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Thymoma
Skin rash, Pericarditis, Thyroiditis, Keratoconjunctivitis sicca, Myocarditis, Myositis, Arthritis ORPHA:99867
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Proximal muscle weakness, Distal muscle weakness, Generalized amyot... ORPHA:52430
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscle weakness, Macroglossia, Muscular dystrophy, Triangular tongue, Skeletal muscle atrophy, Ca... OMIM:616827
Myopathy Due To Myoadenylate Deaminase Deficiency
Muscle weakness, Myopathy, Rhabdomyolysis, Skeletal muscle atrophy OMIM:615511
Combined Oxidative Phosphorylation Defect Type 27
Involuntary movements, Ragged-red muscle fibers, Tetraparesis, Upper limb postural tremor ORPHA:477774
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Glycogen Storage Disease, Type Ixd
Muscle weakness, Skeletal muscle atrophy OMIM:300559
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Limb muscle weakness OMIM:606842
Antisynthetase Syndrome
Myositis, Skin rash, Keratoconjunctivitis sicca, Myocarditis ORPHA:81
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, External ophthalmoplegia, Respiratory insufficiency due to muscle w... OMIM:164310
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Decreased muscle mass, Vocal cord paralysis, Knee flexion contracture, Broad-b... OMIM:615490
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Flexion contracture, Panniculitis, Conjunctivitis, Sinusitis, Myositis, Arthritis OMIM:617591
Pediatric Systemic Lupus Erythematosus
Hemiplegia, Skin rash, Discoid lupus rash, Malar rash, Myositis, Nephritis, Arthritis ORPHA:93552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscle weakness, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Hypoglyc... OMIM:615351
Congenital Muscular Dystrophy With Intellectual Disability
Fatigable weakness of skeletal muscles, Skeletal muscle hypertrophy, Hypoglycosylation of alpha-d... ORPHA:370968
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Distal amyotrophy, Vocal cord paresis OMIM:607706
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, External ophthalmoplegia, Failure to thrive in infancy, Increased variabilit... OMIM:619026
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Pneumonia, Septic arthritis, Glomerulonephritis, Hepatitis, Fasciitis, En... ORPHA:36234
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Paralysis OMIM:605285
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein, Apraxia, Hypertonia, Oculomotor apraxia, Ataxia,... ORPHA:1020
Amyotrophic Lateral Sclerosis 18
Muscle weakness, Skeletal muscle atrophy OMIM:614808
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Dystonia, Spastic tetraparesis, Bradykinesia OMIM:614924
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Difficulty walking, Limb ataxia, A... OMIM:617675
Hypokalemic Periodic Paralysis, Type 1
Muscle weakness, Myopathy, Episodic flaccid weakness OMIM:170400
Mixed Connective Tissue Disease
Skin rash, Pericarditis, Keratoconjunctivitis sicca, Gastritis, Myocarditis, Myositis, Arthritis ORPHA:809
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Weight loss, Progressive external ophthalmoplegia, Distal muscle weakness, Distal ... OMIM:603041
Combined Oxidative Phosphorylation Defect Type 13
Muscle weakness, Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber atr... ORPHA:319514
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis ORPHA:589
Fusariosis
Peritonitis, Bronchiectasis, Panniculitis, Maculopapular exanthema, Pneumonia, Keratitis, Fasciit... ORPHA:228119
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Shoulder girdle muscle weakness, Distal muscle ... OMIM:606070
Sweet Syndrome
Inflammation of the large intestine, Pustule, Panniculitis, Oligoarthritis, Myositis, Acne invers... ORPHA:3243
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia, Membranous nephropathy, ... ORPHA:37042
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Ophthalmoplegia, Left ventricular hypertrophy OMIM:540000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Progressive external ophthalmoplegia, Generaliz... ORPHA:352447
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, EMG: myopathic abnormalities, Increased muscle glycogen content, Tremor, Incr... ORPHA:502423
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle weakness, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture... OMIM:616866
Aicardi-Goutières Syndrome
Dystonia, Tremor, Extrapyramidal muscular rigidity, Spastic paraparesis, Abnormality of extrapyra... ORPHA:51
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Gait disturbance, Slurred speech, Ataxia ORPHA:1349
Microsporidiosis
Peritonitis, Prostatitis, Nephritis, Endocarditis, Lymphadenitis, Thyroiditis, Pneumonia, Cholang... ORPHA:2552
Behçet Disease
Endocarditis, Pericarditis, Increased inflammatory response, Retrobulbar optic neuritis, Gait dis... ORPHA:117
Pyomyositis
Myositis, Recurrent cutaneous abscess formation ORPHA:764
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle weakness, Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Proximal amyotrophy OMIM:159400
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Progressive gait ataxia, Myoclonus, Muscle fiber necrosis, Ragged-red muscle fibers, Increased va... OMIM:607459
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Muscle weakness, Rhabdomyolysis, Glycogen accumulation in musc... ORPHA:368
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Shoulder girdle muscle weakness, Abdominal w... ORPHA:263297
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Type 1 muscle fiber predominance, Nemali... ORPHA:171430
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Leg muscle stiffness, Paraparesis, Gait disturbance, Hemiparesis, Par... ORPHA:43
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Progressive external ophthalmoplegia, Proximal muscle weakness, Pro... OMIM:609286
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Uveitis, Orchitis, Conjunctivitis, Erysipelas, Fasciitis, M... ORPHA:32960
Snakebite Envenomation
Pseudobulbar paralysis, Rhabdomyolysis, Paralysis, Respiratory paralysis, Muscle fiber necrosis ORPHA:449285
Myopathy With Lactic Acidosis, Hereditary
Muscle weakness, Myopathy, Rhabdomyolysis, Increased intramyocellular lipid droplets OMIM:255125
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Horner Syndrome, Congenital
Paralysis OMIM:143000
Machado-Joseph Disease Type 1
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abno... ORPHA:276238
Machado-Joseph Disease Type 2
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abno... ORPHA:276241
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Ehlers-Danlos Syndrome, Classic-Like
Proximal muscle weakness, Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis OMIM:188580
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Gait disturbance, Flexion contracture, Hypertonia, Periodic hyperkal... ORPHA:682
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Abnormality of the extraocular muscles, External ophthalmoplegia, Weight l... ORPHA:298
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Ophthalmoparesis, Skeletal muscle atrophy ORPHA:3068
Juvenile Dermatomyositis
Skin rash, Pericarditis, Calcinosis, Myositis, Arthritis ORPHA:93672
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Proximal muscle weakness, Ragged-red muscle fibers, Ophthalmoparesis, Increased variability in mu... ORPHA:70595
Glycogen Storage Disease Vii
Increased muscle glycogen content, Muscle weakness OMIM:232800
Neutral Lipid Storage Myopathy
Neck muscle weakness, Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intra... ORPHA:98908
Synaptic Congenital Myasthenic Syndromes
Neck muscle weakness, Muscle weakness, Hand muscle weakness, Scapular winging, Proximal muscle we... ORPHA:98915
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormal... ORPHA:79083
Native American Myopathy
Muscle weakness, Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Abnor... ORPHA:168572
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Gait disturbance, Muscular dystrophy, Flexion contracture, Hypoglycosyla... ORPHA:272
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe OMIM:175700
Myotonic Dystrophy 2
Type 2 muscle fiber atrophy, Neck flexor weakness, Proximal muscle weakness OMIM:602668
Congenital Myasthenic Syndrome
Neck muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Proximal ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neck muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Proximal ... ORPHA:98914
Variegate Porphyria
Paralysis OMIM:176200
Primary Sjögren Syndrome
Parotitis, Arteritis, Chronic active hepatitis, Thyroiditis, Chorea, Optic neuritis, Chronic hepa... ORPHA:289390
Machado-Joseph Disease Type 3
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abno... ORPHA:276244
Poliomyelitis
Inability to walk, Myelitis, Paraparesis, Hyperkinetic movements, Lower limb muscle weakness, Par... ORPHA:2912
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Congenital Fiber-Type Disproportion Myopathy
Pelvic girdle muscle weakness, Weight loss, Shoulder girdle muscle weakness, Generalized muscle w... ORPHA:2020
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Amyotrophic Lateral Sclerosis
Paralysis, Skeletal muscle atrophy, Spasticity ORPHA:803
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Paralysis, Athetosis OMIM:300857
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Progressive muscle weakness OMIM:607426
Polymyositis
Abnormal muscle fiber morphology, Weight loss, Proximal muscle weakness ORPHA:732
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower limb muscle we... ORPHA:79102
Kearns-Sayre Syndrome
Muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia OMIM:530000
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Parkinsonism ORPHA:140989
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Flexion contracture, Failure to thrive, Skeletal muscle atrophy... ORPHA:367
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Facial muscle hypertrophy, Periodic hypokalemic paresis ORPHA:684
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Wrist flexion contracture, Muscle fiber necrosis, Knee flexion cont... OMIM:618733
Brown-Vialetto-Van Laere Syndrome 1
Clumsiness, Knee clonus, Ataxia, Ankle clonus, Hand muscle atrophy, Facial palsy, Vocal cord para... OMIM:211530
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Hypomimic face, Abnormality of extrapyramidal motor function, Hyper... ORPHA:254892
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Increased intramyocellular lipid droplets, Hypertonia, Flexion contracture, Rhabdomyoly... ORPHA:17
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis, Bronchiectasis ORPHA:2375
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Congenital contracture, Increased ... OMIM:613150
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Muscle weakness, Ragged-red muscle fibers, Rhabdomyolysis, Failure to thrive OMIM:124000
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Exaggerat... OMIM:272750
Japanese Encephalitis
Pill-rolling tremor, Dystonia, Tremor, Cogwheel rigidity, Abnormality of extrapyramidal motor fun... ORPHA:79139
Neutral Lipid Storage Disease With Ichthyosis
EMG: myopathic abnormalities, Increased intramyocellular lipid droplets, Difficulty walking, Atax... ORPHA:98907
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Failure to thrive, Increased intramyocellular lipid droplets, Weakness of facial musculature, Res... OMIM:220110
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Failure to thrive OMIM:613845
Tetrasomy 9P
Myositis, Arthritis, Pericarditis, Hyperactivity ORPHA:3310
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Type 2 muscle fiber predominance, Conge... OMIM:619036
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Poor head control, Hypoglycosylation of alpha-dystroglycan ORPHA:370997
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis ORPHA:230800
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Increased muscle lipid content, Skeletal myopathy... ORPHA:565612
Charcot-Marie-Tooth Disease Type 4C
Inability to walk, Tibialis atrophy, Gait ataxia, Scapular winging, Decreased muscle mass, Proxim... ORPHA:99949
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Increased intramyocellular lipid droplets, Rhabdomyolysis, Proximal muscle weak... ORPHA:26791
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Abnormal skeletal muscle morphology ORPHA:142
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Myoclonus, Paralysis ORPHA:83601
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle weakness, EMG: myopathic abnormalities, Wrist drop, Decreased muscle mass, Generalized mus... ORPHA:1900
Choreoacanthocytosis
Hypertonia, Head titubation, Progressive inability to walk, Falls, Hyperactivity, Phonic tics, Po... ORPHA:2388
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Gait ataxia, Chorea, Hypertonia, Ataxia, Ragged-red muscle fibers, Spasticity ORPHA:255210
Gitelman Syndrome
Paralysis, Rhabdomyolysis, Ataxia OMIM:263800
Tick-Borne Encephalitis
Tremor, Incoordination, Myelitis, Speech apraxia, Hyperkinetic movements, Paralysis, Facial palsy... ORPHA:297
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Renal Tubular Acidosis, Distal, 1
Periodic hypokalemic paresis, Periodic paralysis OMIM:179800
Melas
Ragged-red muscle fibers, Gait disturbance, Hemiparesis, Ataxia, Abnormal mitochondria in muscle ... ORPHA:550
Foodborne Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis ORPHA:228371
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Elbow flexion contracture, Knee flexion contracture, Increased muscle lipid content OMIM:608836
Glioblastoma
Paralysis ORPHA:360
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Arnold-Chiari Malformation Type I
Gait ataxia, Progressive cerebellar ataxia, Vocal cord paralysis, Babinski sign, Abnormality of t... ORPHA:268882
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis OMIM:613239
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Paralysis, Myoclonus, Ataxia OMIM:203700
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Inhalational Botulism
Paralysis ORPHA:254504
Porphyria, Acute Intermittent
Paralysis, Respiratory paralysis OMIM:176000
African Trypanosomiasis
Tremor, Myelitis, Pericarditis, Akinesia, Iritis, Difficulty walking, Gait disturbance, Hemipares... ORPHA:3385
Singleton-Merten Syndrome 1
Muscle weakness, Tendon rupture, Muscle fiber atrophy, Decreased body weight OMIM:182250
Encephalocraniocutaneous Lipomatosis
Hemiplegia, Hypertonia, Hemiparesis, Paralysis, Tetraplegia, Rigidity, Spasticity ORPHA:2396
Gitelman Syndrome
Rhabdomyolysis, Hashimoto thyroiditis, Paralysis, Gout, Tubulointerstitial nephritis ORPHA:358
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Limb ataxia, Hypertonia, Oculomotor apraxia, Paralysis, Bacterial endocarditi... ORPHA:2072
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Muscle weakness, Type 1 muscle fiber atrophy, Macroglossia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Muscle weakness, Type 1 muscle fiber atrophy, Macroglossia ORPHA:352665
Pineoblastoma
Lethargy, Paralysis ORPHA:251909
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis ORPHA:91347

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Myh4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Myh4.

No publications found that use IMPC mice or data for Myh4.

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MGI Allele Allele Type Produced
Myh4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Myh4tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Myh4tm48299(L1L2_Bact_P) Targeting vectors

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