| H01341 | |
| H number | H01341 |
| Name | Collagen VI myopathy |
| Description | 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. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | COL6A1 [HSA:1291] [KO:K06238] COL6A2 [HSA:1292] [KO:K06238] COL6A3 [HSA:1293] [KO:K06238] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C70.6 ICD-10: G71.8 MeSH: C537521 C535436 C564968 OMIM: 254090 158810 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 PMID:20301676 AUTHORS Lampe AK, Flanigan KM, Bushby KM, Hicks D TITLE Collagen Type VI-Related Disorders JOURNAL GeneReviews (1993) |