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Disease Myopathy, Central Core

Name Myopathy, Central Core
Synonyms CCD | CCO MINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED | Central Core Disease | Central Core Disease of Muscle | Central Core Diseases | Central Core Myopathies | Central Core Myopathy | CNMDU1, INCLUDED | MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED | MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED | Myopathies, Central Core | NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED | Shy Magee Syndrome | Shy-Magee Syndrome | Syndrome, Shy-Magee
Definition An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)
Categories Musculoskeletal disease | Nervous system disease
MeSH® ID D020512
OMIM® ID 117000
External Links

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 Myopathy, Central Core 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 Myopathy, Central Core Has associated chemicals Has associated genes

Top ↑ Descendants

Myopathy, Central Core Has associated chemicals Has associated genes
  Chudley-Rozdilsky syndrome
  Minicore Myopathy, Moderate, with Hand Involvement
  Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber