Ontology highlight
ABSTRACT:
SUBMITTER: Bonnemann CG
PROVIDER: S-EPMC5207779 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Handbook of clinical neurology 20110101
Mutations in the genes COL6A1, COL6A2, and COL6A3, coding for three α chains of collagen type VI, underlie a spectrum of myopathies, ranging from the severe congenital muscular dystrophy-type Ullrich (UCMD) to the milder Bethlem myopathy (BM), with disease manifestations of intermediate severity in between. UCMD is characterized by early-onset weakness, associated with pronounced distal joint hyperlaxity and the early onset or early progression of more proximal contractures. In the most severe c ...[more]