Ontology highlight
ABSTRACT:
SUBMITTER: Lampe AK
PROVIDER: S-EPMC1736127 | biostudies-other | 2005 Sep
REPOSITORIES: biostudies-other
Journal of medical genetics 20050901 9
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. BM is a relatively mild dominantly inherited disorder characterised by proximal weakness and distal joint contractures. UCMD was originally described as an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperl ...[more]