Collagen VI myopathy [DS:
Congenital muscular dystrophies (CMD/MDC) [DS:
Myosclerosis is an autosomal recessive disorder caused by nonsense mutation of COL6A2. This disease is one of the collagen VI myopathies, characterized by difficulty in walking in early childhood, toe walking, and progressive contractures of calf muscles. In the early 30s the muscles are slender with a firm woody consistency and associated with contractures that restrict range of motion of many joints.
Nervous system disease; Musculoskeletal disease
Human diseases [BR:
Human diseases in ICD-11 classification [BR:
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C72 Congenital myopathies
PI3K-Akt signaling pathway
Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P
Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
Neurology 71:1245-53 (2008)
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