KEGG   DISEASE: MyosclerosisHelp
Entry
H01338                      Disease                                

Name
Myosclerosis
  Supergrp
Collagen VI myopathy [DS:H01341]
Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
Description
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.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H01338  Myosclerosis
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C72  Congenital myopathies
     H01338  Myosclerosis
BRITE hierarchy
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
Gene
COL6A2 [HSA:1292] [KO:K06238]
Other DBs
ICD-11: 8C72.0Y
ICD-10: G71.8
MeSH: C564968
OMIM: 255600
Reference
  Authors
Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P
  Title
Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
  Journal
Neurology 71:1245-53 (2008)
DOI:10.1212/01.wnl.0000327611.01687.5e
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