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Gene: Cfl2 MGI:101763

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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:
cofilin 2, muscle
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Cfl2 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 Cfl2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Neck muscle weakness, Limb m... OMIM:610687
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo... ORPHA:171436

The table below shows human diseases predicted to be associated to Cfl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Difficulty ... OMIM:616199
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Somatic sensory dysfun... OMIM:158600
Oculopharyngeal Muscular Dystrophy 1
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, G... OMIM:164300
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness, Distal muscle weakness, Dysphagia OMIM:147421
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Difficulty walking, Neck muscle weakness, Limb muscle weakn... OMIM:500002
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Steppage gait, Distal muscle weakness OMIM:604454
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy, Gait a... ORPHA:309169
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakness, Proximal muscle weakness OMIM:616231
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Distal sensory impairment, Tremor, Fiber type grouping, Distal muscle weakness OMIM:614369
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, P... OMIM:618848
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb muscle weakness, Difficulty walking, Distal upper limb amyotro... ORPHA:603
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Type 1 muscle fiber predominance, Muscle weakness OMIM:616304
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... OMIM:617030
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Proximal muscle weakness, Mus... OMIM:609524
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Short stature, Facial palsy, N... OMIM:616209
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Loss of ambula... OMIM:603511
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... ORPHA:97240
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li... OMIM:608358
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... OMIM:619477
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Progressive distal muscle wea... ORPHA:399086
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Generalized ... OMIM:256030
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Progressive ex... OMIM:617069
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tip-toe gait, Tibialis anterior muscle atrophy, Neck mu... OMIM:160500
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... OMIM:618940
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... OMIM:610542
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, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop... OMIM:609284
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Tip-toe g... OMIM:254130
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Impaired vibratory sensation, Up... OMIM:616924
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Gait disturbance, Facia... OMIM:609273
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Gowers sign, Reduced muscle fiber alph... ORPHA:280333
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Difficulty walking, Neck muscle weakness, ... OMIM:609285
Moderate Multiminicore Disease With Hand Involvement
Distal upper limb muscle weakness, Type 1 muscle fiber predominance, Generalized muscle weakness,... ORPHA:178145
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... OMIM:618654
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Prog... OMIM:617070
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
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
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Inability to walk, Ragged-red muscle fibers, Ataxia, Dystonia, Athetosis OMIM:615159
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Postur... OMIM:619790
Distal Nebulin Myopathy
Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Slender build, Progre... ORPHA:399103
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Neck muscle weakness, Limb m... OMIM:610687
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Distal upper limb muscle weakness, Impaired pain sensation, L... OMIM:607684
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
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
Merrf
Short stature, Ragged-red muscle fibers, Myopathy, Ataxia ORPHA:551
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Late-onset distal muscle weakness, Slender build, Type 1 muscle fiber predominan... OMIM:161800
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Failure to thrive, Type 1 muscle fiber predominance, Multiple joint contractur... ORPHA:424107
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Failure to thrive, Muscle weakness, Inability to walk, Type 1 muscle fib... OMIM:618276
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Steppage g... OMIM:610099
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Ragged-red muscle fibers, Myopathy, Ataxia OMIM:545000
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Distal Myotilinopathy
Distal amyotrophy, Difficulty walking, Progressive distal muscle weakness, Multiple joint contrac... ORPHA:98911
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... OMIM:601462
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Steppage gait, Tibialis mu... OMIM:600334
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
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 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Neuromuscular dysphagia, Upper l... ORPHA:171442
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Neck muscle weakness, Increased muscle lipid content, Hypertrophied muscle fib... OMIM:500009
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Striatonigral Degeneration, Infantile, Mitochondrial
Ophthalmoparesis, Difficulty walking, Chorea, Ragged-red muscle fibers, Motor tics, Lingual dysto... OMIM:500003
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Ophthalmoparesis, Neck muscle weakness, Limb muscle weakness, Weakness of facial musculature, Gen... OMIM:608930
Myasthenic Syndrome, Congenital, 5
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Type 1 muscle fiber predominance, ... OMIM:603034
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Diaph... OMIM:614399
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Failure to thrive, Upper limb muscle weakness, Elbow contracture, Muscle fibe... OMIM:613205
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Generalized weakness of limb muscles, Difficulty walking, Type 1 muscle fiber predom... ORPHA:353327
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Failure to thrive, Generalized muscle weakness, Proxi... OMIM:255310
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Abnormal muscle fiber morph... ORPHA:270
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ophthalmoparesis, Broad-based gait, Skeletal muscle atrophy, Lower limb muscle weakness, Difficul... OMIM:616479
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 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, P... OMIM:613530
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... OMIM:160150
Amyotrophic Lateral Sclerosis 27, Juvenile
Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Q... OMIM:620285
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Loss of ambulation, Calf muscle hyper... OMIM:616052
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Dysmetria, Distal lower limb muscle weakness, Fiber type grouping, Th... OMIM:619903
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Bethlem Muscular Dystrophy
Difficulty walking, Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture... ORPHA:610
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Neuromuscular dysphagia, General... ORPHA:171439
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Neonatal death, Generalized mus... OMIM:616165
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Nemaline Myopathy 8
Nemaline bodies, Ophthalmoparesis, Myofibrillar myopathy, Flexion contracture, Facial palsy, Dysp... OMIM:615348
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... ORPHA:1878
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... ORPHA:353
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Resti... ORPHA:401768
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Gowers sign, Intrauterine growth retardation, Proxima... OMIM:255200
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Ankle weakness, Shoulder girdle muscle weakness, Difficulty walking, Distal uppe... ORPHA:600
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Muscle weakness, Respiratory insufficiency due... OMIM:300816
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Muscular dystrophy, Gowers sign, Difficulty walking, Limb-girdle muscl... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:608807
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophtha... OMIM:613662
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle weakness OMIM:614807
Autosomal Recessive Progressive External Ophthalmoplegia
External ophthalmoplegia, Shuffling gait, Hand muscle weakness, Muscle fiber atrophy, Paresthesia... ORPHA:254886
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... OMIM:609452
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness, Scapular wing... OMIM:616471
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... ORPHA:34515
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... ORPHA:663
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Respiratory... OMIM:300580
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Gowers sign, Calf muscle hypertrophy, Proximal mu... OMIM:611615
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Impaired pain sensation, Impaired temperature sensati... OMIM:619574
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Ophthalmoparesis, Skeletal muscle atrophy, Decreased muscle mass, Fatigable weakness, Type 2 musc... OMIM:608931
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Somatic sensory dysfunction, Impaired vib... ORPHA:99013
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Juvenile Amyotrophic Lateral Sclerosis
Difficulty walking, Muscle fiber atrophy, Axial dystonia, Proximal muscle weakness, Opisthotonus,... ORPHA:300605
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Facial diplegia, Type 1 muscle fibe... ORPHA:171433
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Weakness of facial musculature, Type 1 muscle fiber... OMIM:617519
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ophthalmoparesis, Limb muscle weakness, Fatigable weakness, Myopathy, Bulbar palsy, Type 2 muscle... OMIM:605809
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Ragged-red muscle fibers, Myopathy, Ataxia, Growth delay OMIM:618242
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tand... OMIM:619028
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... ORPHA:98902
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, D... ORPHA:240094
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Failure to thrive, Ragged-red muscle fibers, Respiratory insufficiency due to muscl... OMIM:613561
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Akinesia, Neonatal death, Arthro... OMIM:619334
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature, Proximal muscle weaknes... OMIM:618416
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... OMIM:160565
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ophthalmoparesis, Fatigable weakness, Bulbar palsy, Type 2 muscle fiber atrophy, Dysphagia, Respi... OMIM:254210
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Ataxia ORPHA:972
Congenital Myopathy 24
Nemaline bodies, Type 1 muscle fiber predominance, Scapular winging, Gowers sign, Facial palsy, M... OMIM:617336
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Prox... OMIM:258450
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, External ophthalmoplegia, Proximal muscle weaknes... ORPHA:98905
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Loss of abili... OMIM:609560
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Ophthalmoplegia, Respiratory insuffic... OMIM:607855
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Musc... ORPHA:263494
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty walking, Muscle fiber atrophy, Cho... ORPHA:369840
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Elbow flexion contracture, Inability to walk, Abnormality of the shou... ORPHA:206546
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
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
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Spinocerebellar Ataxia 28
Ophthalmoparesis, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Ragged-red muscle fibers... OMIM:610246
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Broad-based gait, Scapular muscle a... OMIM:181405
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia ORPHA:480
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Neck muscle weakness, Limb muscle we... OMIM:617258
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Difficulty walking, Facial diplegia, Foot dorsiflexor weak... ORPHA:329478
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Ragged-red muscle fibers, Dystonia, Ophthalmoplegia, Increased in... OMIM:252011
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Postsynaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoul... ORPHA:98913
Combined Oxidative Phosphorylation Deficiency 49
Difficulty walking, Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Classic Multiminicore Myopathy
Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Intermittent episodes of respiratory... ORPHA:324604
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Failure to thrive, Intrauterine growth retardation, Type 1 muscle fibe... ORPHA:319514
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Aggressive behavior,... ORPHA:98764
Congenital Myopathy 9A
Short stature, Obesity, EMG: myopathic abnormalities, Akinesia OMIM:618822
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Cap Myopathy
Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, Fatigua... ORPHA:171881
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Distal arth... OMIM:620011
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Broad-based gait, External ophthalmoplegia, Posit... OMIM:607459
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Leg muscle stiffness, Resting tremor, Inability to ... ORPHA:391411
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ... OMIM:248800
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Ophthal... ORPHA:597
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Fatigable weakness of skeletal muscles, Difficulty walking, Inabi... ORPHA:206559
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... OMIM:614302
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
Hypokalemic Periodic Paralysis
Episodic flaccid weakness, Respiratory paralysis, Increased intramyocellular lipid droplets, Abno... ORPHA:681
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Inability to walk, Weakness of facial musculature, Ty... ORPHA:596
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Distal upper limb muscle weakness, Difficulty walking, Interosseus ... OMIM:500013
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Broad-based gait, Difficulty walking, Myopathy, C... ORPHA:119
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory ataxia, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, Progres... OMIM:609286
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Neuromuscular dysphagia, Falls, Akinesia, Gait imbalance, Axial dystonia, Tremor, ... ORPHA:240071
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Chorea, Athetosis, Dysphagia, Impaired oral bolus... OMIM:617235
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Muscle weakness OMIM:616794
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Gowers sign, Facial palsy, ... OMIM:602541
Kufor-Rakeb Syndrome
Leg muscle stiffness, Akinesia, Distal sensory impairment, Tremor, Aggressive behavior, Gait dist... OMIM:606693
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... OMIM:164310
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Distal amyotrophy, Loss of ambulation, Ophthalmoplegia, Ataxia, Fiber type grouping, Athetosis, D... OMIM:271245
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... ORPHA:254864
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Resting tremor, Hand tre... OMIM:157640
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... OMIM:254090
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Proximal muscle weakness, Weakness o... OMIM:615959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Combined Oxidative Phosphorylation Deficiency 8
Generalized muscle weakness, Increased variability in muscle fiber diameter, Failure to thrive, N... OMIM:614096
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Proximal muscle weakness, Peroneal musc... OMIM:611588
Combined Oxidative Phosphorylation Defect Type 27
Upper limb postural tremor, Dysphagia, Ragged-red muscle fibers ORPHA:477774
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Axial muscle weakness... ORPHA:206569
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Gowers sign, Facial diplegia, Type ... ORPHA:169186
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Hypotonia-Cystinuria Syndrome
Failure to thrive, Postnatal growth retardation, Ragged-red muscle fibers, Polyphagia, Facial pal... OMIM:606407
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Progressive distal mu... ORPHA:397744
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Congenital Myasthenic Syndrome
Difficulty walking, Muscle fiber atrophy, Neck muscle weakness, Intermittent episodes of respirat... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Difficulty walking, Muscle fiber atrophy, Neck muscle weakness, Intermittent episodes of respirat... ORPHA:98914
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Dysphagia, Ataxia, Abnor... ORPHA:247234
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Poor head control, Increased variability in muscle fiber diameter, Failure to thrive OMIM:613752
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Increased variability in muscle fiber diameter, Gait ataxia, Ataxia OMIM:617915
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Spinocerebellar Ataxia 21
Akinesia, Limb ataxia, Gait ataxia, Postural tremor, Aggressive behavior, Ataxia, Dystonia, Inten... OMIM:607454
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ophthalmoparesis, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Gait disturbanc... ORPHA:1349
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Muscle fiber at... OMIM:619542
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Shor... OMIM:226670
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo... ORPHA:171436
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Axial muscle weakness, Flexion contrac... ORPHA:178148
Perry Syndrome
Short stepped shuffling gait, Inappropriate behavior, Akinesia, Tremor, Disinhibition, Weight los... OMIM:168605
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy, Ophthalmoplegia, Gait disturbance, Ataxia OMIM:125250
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Progressive external ophthalm... ORPHA:352447
Congenital Myopathy 12
Joint contracture of the hand, Akinesia, Respiratory insufficiency due to muscle weakness, Campto... OMIM:612540
Mitochondrial Neurogastrointestinal Encephalomyopathy
External ophthalmoplegia, Ophthalmoparesis, Decreased muscle mass, Paresthesia, Foot dorsiflexor ... ORPHA:298
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
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Distal sensory impairmen... OMIM:151800
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Akinesia, Impulsivity, Weight loss, Hypomimic face, Dystonia, Dys... ORPHA:411602
Manganese Poisoning
Akinesia, Inappropriate laughter, Postural tremor, Aggressive behavior, Gait disturbance, Compuls... ORPHA:306682
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Failure to thrive, Elb... OMIM:619461
Synaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Hand muscle weakness, Neck muscle weakness, Type 1 mus... ORPHA:98915
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle ... OMIM:600462
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle... OMIM:616816
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty walking, Inability ... OMIM:617675
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Obesity, Ragged-red muscle fibers, Left ventricular hypertrophy, Achille... OMIM:615418
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Axia... ORPHA:171430
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... OMIM:616866
Postencephalitic Parkinsonism
Oculogyric crisis, Resting tremor, Akinesia, Paresthesia, Generalized muscle weakness, Dysphagia,... ORPHA:97349
Optic Atrophy 11
Increased variability in muscle fiber diameter, Stereotypical body rocking, Facial diplegia, Dysm... OMIM:617302
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Akinesia, Skeletal muscle atrophy OMIM:607598
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Growth delay, Dysdiadochokinesis, Somatic sensory... ORPHA:502423
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Intrauterine growth retardation, Akinesia, Multiple joint contractures, ... ORPHA:994
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Ataxia, Nonprog... OMIM:610198
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ophthalmoplegia, Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy OMIM:540000
Polymyositis
Abnormal muscle fiber morphology, Proximal muscle weakness, Weight loss, Gait disturbance, Anorexia ORPHA:732
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Impaired vibratory sensation, Ophthalmoparesis, G... ORPHA:70595
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Aggressive behavior, Akinesia, Tremor OMIM:300894
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we... ORPHA:98908
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Phonic tics, Decreased muscle mass, Akinesia, Obsessive-compulsive trait, Myopathy... OMIM:234200
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Proximal amyotrophy, Facial palsy... OMIM:615084
Corticobasal Syndrome
Somatic sensory dysfunction, Akinesia, Limb dystonia, Tremor, Gait disturbance, Dystonia ORPHA:454887
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Tremor, Loss of ambulation, Decreased level of coenzyme Q10 in skeletal... OMIM:607426
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture, Failure to thrive OMIM:620240
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Dystonia OMIM:619911
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Small thenar eminence, Scapular winging, Tendon rupture, Fiber... OMIM:620080
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Hypoplasia of the musculature, Akinesia, Joint contracture OMIM:225790
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ophthalmoparesis, Distal amyotrophy, Slender build, Ragged-red muscle fibers, Distal sensory impa... OMIM:603041
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Deposits immunoreactive to beta-amyloid protein, Agitation, Ataxia ORPHA:1020
Parkinson Disease 17
Akinesia, Resting tremor, Tremor OMIM:614203
Gaucher Disease, Perinatal Lethal
Intrauterine growth retardation, Akinesia, Decreased body weight, Neonatal death, Opisthotonus, D... OMIM:608013
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Intrauterine growth retardation, Flexion contracture, Akinesia OMIM:253290
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Ophthalmoparesis, Skeletal muscle atrophy, Abnormal muscle fiber morphology, Short stature, Facia... ORPHA:3068
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98773
Mitochondrial Complex I Deficiency, Nuclear Type 28
Failure to thrive, Akinesia, Poor head control, Truncal ataxia, Choreoathetosis OMIM:618249
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Diffic... OMIM:255125
Congenital Fiber-Type Disproportion Myopathy
Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m... ORPHA:2020
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Ataxia, Short stature, Muscle wea... OMIM:530000
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Axial muscle weakness, Proximal muscle weakness, ... OMIM:616720
Aceruloplasminemia
Blepharospasm, Akinesia, Limb ataxia, Gait ataxia, Chorea, Tremor, Craniofacial dystonia, Tortico... ORPHA:48818
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Rhabdomyolysis, Respiratory paralysis, Muscle fi... ORPHA:449285
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Difficulty walking, Neck mus... ORPHA:99845
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Proximal muscle weakness, Weakness o... OMIM:616239
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Muscle weakness, Scapular winging OMIM:613507
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Difficulty walking,... ORPHA:206572
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle weakness, Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
Autosomal Dominant Progressive External Ophthalmoplegia
Ataxia, External ophthalmoplegia, Ophthalmoparesis, Quadriceps muscle weakness, Failure to thrive... ORPHA:254892
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Proximal m... OMIM:300257
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Absent muscle fiber merosin, Inability to walk, Muscle fiber atrophy, Decreas... ORPHA:258
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Small fo... OMIM:615368
Thyrotoxic Periodic Paralysis
Ophthalmoparesis, Lower limb muscle weakness, Obesity, Episodic flaccid weakness, Rhabdomyolysis,... ORPHA:79102
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Choreoacanthocytosis
Resting tremor, Muscle fiber atrophy, Limb dystonia, Myopathy, Hair-pulling, Loss of ambulation, ... ORPHA:2388
Supranuclear Palsy, Progressive, 2
Falls, Akinesia, Gait imbalance, Retrocollis, Axial dystonia, Postural tremor, Dysphagia OMIM:609454
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Limb dystonia, Retrocollis, Axial dystonia, Tremor, Dysphagia OMIM:601104
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Inability to walk, Muscle fiber atrophy, Short s... ORPHA:168572
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Growth delay, Small for gestational age, Failure to thrive OMIM:619147
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Ophthalmoparesis, Difficulty walking, Gait ataxia, Ragged-red muscle fibers, Exaggerated ... OMIM:620451
Mitochondrial Dna-Associated Leigh Syndrome
Ophthalmoparesis, Failure to thrive, Chorea, Gait ataxia, Ragged-red muscle fibers, Ataxia, Dysto... ORPHA:255210
Ehlers-Danlos Syndrome, Classic-Like, 1
Proximal amyotrophy, Muscle fiber splitting, Proximal muscle weakness OMIM:606408
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... OMIM:618733
Arthrogryposis Multiplex Congenita 5
Growth delay, Hand tremor, Elbow flexion contracture, Intrauterine growth retardation, Akinesia, ... OMIM:618947
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Ragged-red muscle fibers, Ophthalmoplegia, Poor head control, Dystonia OMIM:614924
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death OMIM:300219
Dpagt1-Cdg
Head-banging, Failure to thrive, Inability to walk, Akinesia, Stereotypical body rocking, Tremor,... ORPHA:86309
Myasthenia, Limb-Girdle, Autoimmune
Ophthalmoparesis, Proximal amyotrophy, Type 2 muscle fiber atrophy, Fatigable weakness OMIM:159400
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Proximal muscle weakness, Weakness of facial musculature, Neck fl... OMIM:602668
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Failure to thrive, Ragge... ORPHA:17
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Impaired vibratory sensation, Muscle weakness, Decreased muscle mass, Elbow flexion contracture, ... ORPHA:1900
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Myopathy, Delayed puberty, Short stature, Muscle ... OMIM:611881
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Idiopathic Camptocormia
Fatigable weakness of skeletal muscles, Proximal spinal muscular atrophy, Abnormal muscle fiber d... ORPHA:1320
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Limb dystonia, Resting tremor OMIM:616840
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Myopathy, Skeletal musc... ORPHA:79083
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Failure to thrive, Ragged-red muscle fibers, Increased intramyocellular ... OMIM:252010
Melas
Failure to thrive, Ragged-red muscle fibers, Myopathy, Progressive external ophthalmoplegia, Gait... ORPHA:550
African Trypanosomiasis
Somatic sensory dysfunction, Difficulty walking, Akinesia, Paresthesia, Tremor, Aggressive behavi... ORPHA:3385
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Ragged-red muscle fibers, Rhabdomyolysis, Neonatal death, Ataxia, Muscle weakness OMIM:124000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture OMIM:613154
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Abnormality of the shoulder girdle musculature, Increased muscle lipid content, ... ORPHA:565612
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Decreased body weight, Tendon rupture, Short stature, Muscle weakness, Wadd... OMIM:182250

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 Cfl2

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 Cfl2.

No publications found that use IMPC mice or data for Cfl2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cfl2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cfl2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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