Article
Drosophila basement membrane collagen col4a1 mutations cause severe myopathy.
Matrix biology : journal of the International Society for Matrix Biology - 1 Jan 2012
Kelemen-Valkony Ildikó, Kiss Márton, Csiha Judit, Kiss András, Bircher Urs, Szidonya János, Maróy Péter, Juhász Gábor, Komonyi Orbán, Csiszár Katalin, Mink Mátyás
Abstract excerpt
Recent data from clinical and mammalian genetic studies indicate that COL4A1 mutations manifest with basement membrane defects that result in muscle weakness, cramps, contractures, dystrophy and atrophy. In-depth studies of mutant COL4A1-associated muscle phenotype, however, are lacking and significant details of the muscle-specific pathomechanisms remain unknown. In this study, we have used a comprehensive set...
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