Bethlem myopathy

Bethlem myopathy
a genetically heterogeneous, autosomal dominant myopathy with onset in early infancy, caused by mutation in any of the three genes that encode collagen VI subunits. It is characterized by slowly progressive weakness of the upper arm and pelvic girdle muscles; hypotonia; delayed motor milestones; talipes; torticollis; and contractures of the ankles, hips, knees, and elbows.

Medical dictionary. 2011.

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  • COL6A1 — Collagen, type VI, alpha 1, also known as COL6A1, is a human gene.cite web | title = Entrez Gene: COL6A1 collagen, type VI, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=1291| accessdate = ] PBB… …   Wikipedia

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