KEGG   DISEASE: Bethlem myopathy
Entry
H01340                      Disease                                

Name
Bethlem myopathy
  Subgroup
Bethlem myopathy 2 [DS:H02247]
  Supergrp
Collagen VI myopathy [DS:H01341]
Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
Description
Bethlem myopathy is one of the collagen VI myopathies, caused by mutation of COL6A. Bethlem myopathy is usually inherited in an autosomal dominant manner, but a rare autosomal recessive inheritance has recently been reported. This disease is characterized by a combination of proximal muscle weakness and contractures of finger, elbow, and ankle joints.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H01340  Bethlem 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
     H01340  Bethlem 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: C535436
OMIM: 158810
Reference
  Authors
Lampe AK, Flanigan KM, Bushby KM, Hicks D
  Title
Collagen Type VI-Related Disorders
  Journal
GeneReviews (1993)
Reference
  Authors
Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L
  Title
Autosomal recessive Bethlem myopathy.
  Journal
Neurology 73:1883-91 (2009)
DOI:10.1212/WNL.0b013e3181c3fd2a
Reference
  Authors
Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bonnemann CG, Roberts M, Lochmuller H, Bushby K, Straub V
  Title
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
  Journal
Hum Mol Genet 23:2353-63 (2014)
DOI:10.1093/hmg/ddt637

» Japanese version

DBGET integrated database retrieval system