| H01341 | |
| H番号 | H01341 |
| 名称 | 6型コラーゲン関連筋疾患 |
| 概要 | Collagen VI-related myopathy include severe Ullrich congenital muscular dystrophy (UCMD) and milder Bethlem myopathy. Mutations in each of the three collagen VI genes COL6A1, COL6A2, and COL6A3 cause these diseases. Recently, additional phenotypes, autosomal recessive myosclerosis with mutations in COL6A2 have been reported. Collagen VI is an important component of the extracellular matrix which forms a microfibrillar network that is found in close association with the cell and surrounding basement membrane. Thus, collagen VI mutations result in disorders with combined muscle and connective tissue involvement, including weakness, joint and contractures, and abnormal skin findings. |
| 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 | COL6A1 [HSA:1291] [KO:K06238] COL6A2 [HSA:1292] [KO:K06238] COL6A3 [HSA:1293] [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: 8C70.6 ICD-10: G71.8 MeSH: C537521 C535436 C564968 OMIM: 254090 158810 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 PMID:20301676 著者 Lampe AK, Flanigan KM, Bushby KM, Hicks D タイトル Collagen Type VI-Related Disorders 雑誌 GeneReviews (1993) |