Article
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
Annals of neurology - 1 Sept 2005
Giusti Betti, Lucarini Laura, Pietroni Valentina, Lucioli Simona, Bandinelli Brunella, Sabatelli Patrizia, Squarzoni Stefano, Petrini Stefania, Gartioux Corine, Talim Beril, Roelens Filip, Merlini Luciano, Topaloglu Haluk, Bertini Enrico, Guicheney Pascale, Pepe Guglielmina
Abstract excerpt
In this study, we characterized five Ullrich scleroatonic muscular dystrophy patients (two Italians, one Belgian, and two Turks) with a clinical phenotype showing different degrees of severity, all carrying mutations localized in COL6A1. We sequenced the three entire COL6 complementary DNA. Three of five patients have recessive mutations: two patients (P1and P3) have homozygous single-nucleotide deletions, one in...
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