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Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

17 Nov 2004

Abstract excerpt

Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered a recessive condition, and homozygous or compound heterozygous mutations have been defined in COL6A2 and COL6A3. In...

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PMID: 15563506
DOI: 10.1093/hmg/ddi025

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