Article
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.
Neuromuscular disorders : NMD - 1 Aug 2007
Petrini Stefania, D'Amico Adele, Sale Patrizio, Lucarini Laura, Sabatelli Patrizia, Tessa Alessandra, Giusti Betti, Verardo Margherita, Carrozzo Rosalba, Mattioli Elisabetta, Scarpelli Marina, Chu Mon-Li, Pepe Guglielmina, Russo Matteo Antonio, Bertini Enrico
Abstract excerpt
Ullrich congenital muscular dystrophy (UCMD) is clinically characterized by muscle weakness, proximal contractures and distal hyperlaxity and morphologically branded by absence or reduction of collagen VI (ColVI), in muscle and in cultured fibroblasts. The ColVI defect is generally related to COL6 genes mutations, however UCDM patients without COL6 mutations have been recently reported, suggesting genetic...
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