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Disease Myopathies, Structural, Congenital

Name Myopathies, Structural, Congenital
Synonyms Aggregate Myopathies, Tubular | Aggregate Myopathy, Tubular | Autosomal Dominant Myotubular Myopathy | Autosomal Recessive Centronuclear Myopathy | Centronuclear Myopathies | Centronuclear Myopathies, X-Linked | Centronuclear Myopathy | Centronuclear Myopathy, X-Linked | CFTD | CFTDM | CNM1 | CNM2 | CNM3 | CNM4 | CNM5 | CNMX | Congenital Fiber Type Disproportion | Congenital Fiber-Type Disproportion | Congenital Fiber-Type Disproportions | Congenital Myopathy with Fiber Type Disproportion | Congenital Non Progressive Myopathies | Congenital Non-Progressive Myopathies | Congenital Non-Progressive Myopathy | Congenital Structural Myopathies | Congenital Structural Myopathy | Disproportion, Congenital Fiber-Type | Disproportions, Congenital Fiber-Type | Fiber-Type Disproportion, Congenital | Fiber Type Disproportion Myopathy, Congenital | Fiber-Type Disproportion Myopathy, Congenital | Fiber-Type Disproportions, Congenital | MTM1 | MTMX | Myopathies, Centronuclear | Myopathies, Congenital Non-Progressive | Myopathies, Congenital Structural | Myopathies, Myotubular | Myopathies, Tubular Aggregate | Myopathies, X-Linked Centronuclear | Myopathies, X-Linked Myotubular | Myopathy, Centronuclear | Myopathy, Centronuclear, 1 | MYOPATHY, CENTRONUCLEAR, 2 | MYOPATHY, CENTRONUCLEAR, 3 | MYOPATHY, CENTRONUCLEAR, 4 | MYOPATHY, CENTRONUCLEAR, 5 | Myopathy, Centronuclear, Autosomal Dominant | MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE | MYOPATHY, CENTRONUCLEAR, X-LINKED | Myopathy, Congenital Non-Progressive | Myopathy, Congenital Structural | Myopathy, Congenital, With Fiber-Type Disproportion | Myopathy, Myotubular | Myopathy, Tubular Aggregate | MYOPATHY, TUBULAR AGGREGATE, 1 | MYOPATHY, TUBULAR AGGREGATE, 2 | Myopathy, X-Linked Centronuclear | Myopathy, X-Linked Myotubular | Myotubular Myopathies | Myotubular Myopathies, X-Linked | Myotubular Myopathy | Myotubular Myopathy 1 | Myotubular Myopathy, Autosomal Dominant | MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE | Myotubular Myopathy, X Linked | Myotubular Myopathy, X-Linked | Non Progressive Myopathies, Congenital | Non-Progressive Myopathies, Congenital | Non-Progressive Myopathy, Congenital | Structural Myopathies, Congenital | Structural Myopathy, Congenital | TAM | TAM1 | TAM2 | Tubular Aggregate Myopathies | Tubular Aggregate Myopathy | X-Linked Centronuclear Myopathies | X Linked Centronuclear Myopathy | X-Linked Centronuclear Myopathy | X-Linked Myotubular Myopathies | X Linked Myotubular Myopathy | X-Linked Myotubular Myopathy | XLMTM
Definition A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
Categories Musculoskeletal disease | Nervous system disease
MeSH® ID D020914
OMIM® IDs 160150 | 160565 | 255200 | 255310 | 310400 | 614408 | 614807 | 615883 | 615959
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Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Muscular Diseases Has associated chemicals Has associated genes Myopathies, Structural, Congenital Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neuromuscular Diseases Has associated chemicals Has associated genes Has associated exposure references Muscular Diseases Has associated chemicals Has associated genes Myopathies, Structural, Congenital Has associated chemicals Has associated genes

Top ↑ Descendants

Myopathies, Structural, Congenital Has associated chemicals Has associated genes
  Actin-Accumulation Myopathy
  Cap Myopathy
  Minicore Myopathy with External Ophthalmoplegia Has associated chemicals Has associated genes
View node Myofibrillar Myopathy Has associated chemicals Has associated genes
View node Myopathies, Nemaline Has associated chemicals Has associated genes
View node Myopathy, Central Core Has associated chemicals Has associated genes
  Myopathy, Centronuclear, Autosomal Recessive
  Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
  Myopathy, Myofibrillar, Bag3-Related
  Myosclerosis, Autosomal Recessive Has associated chemicals Has associated genes
  Myotilinopathy Has associated chemicals Has associated genes
  Myotubular Myopathy with Abnormal Genital Development
  Pleoconial Myopathy with Salt Craving
  Spheroid body myopathy