KEGG   DISEASE: Collagen VI myopathy
Entry
H01341                      Disease                                

Name
Collagen VI myopathy
  Subgroup
Ullrich congenital muscular dystrophy (UCMD) [DS:H01778]
Bethlem myopathy [DS:H01340]
Myosclerosis [DS:H01338]
  Supergrp
Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
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, an 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
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H01341  Collagen VI myopathy
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C70  Muscular dystrophy
     H01341  Collagen VI myopathy
Related
pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
Gene
COL6A1 [HSA:1291] [KO:K06238]
COL6A2 [HSA:1292] [KO:K06238]
COL6A3 [HSA:1293] [KO:K06238]
Other DBs
ICD-11: 8C70.6
ICD-10: G71.8
MeSH: C537521 C535436 C564968
OMIM: 254090 158810 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
Reference
  Authors
Lampe AK, Flanigan KM, Bushby KM, Hicks D
  Title
Collagen Type VI-Related Disorders
  Journal
GeneReviews (1993)

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