| H01338 | |
| H number | H01338 |
| Name | Myosclerosis |
| 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 |
| Network | - |
| Gene | COL6A2 [HSA:1292] [KO:K06238] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C72.0Y ICD-10: G71.8 MeSH: C564968 OMIM: 255600 |
| Reference | PMID:18852439 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 |