| H01338 | |
| H番号 | H01338 |
| 名称 | 筋硬化症 |
| 概要 | 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. |
| カテゴリ | 神経系疾患; 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | COL6A2 [HSA:1292] [KO:K06238] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C72.0Y ICD-10: G71.8 MeSH: C564968 OMIM: 255600 |
| 文献 | PMID:18852439 著者 Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P タイトル Autosomal recessive myosclerosis myopathy is a collagen VI disorder. 雑誌 Neurology 71:1245-53 (2008) DOI:10.1212/01.wnl.0000327611.01687.5e |