Article
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
Neurology - 14 Jun 2005
Lucioli S, Giusti B, Mercuri E, Vanegas O Camacho, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi A J, Bönnemann C, Iannaccone S T, Merlini L, Bushby K, Muntoni F, Bertini E, Chu M-L, Pepe G
Abstract excerpt
BACKGROUND: Dominant mutations in COL6A1, COL6A2, and COL6A3, the three genes encoding collagen type VI, a ubiquitous extracellular matrix protein, are associated with Bethlem myopathy (BM) and Ullrich scleroatonic muscular dystrophy. METHODS: The authors devised a method to screen the entire coding sequence of the three genes by reverse transcriptase-PCR amplification of total RNA from skin fibroblasts and...
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