Article
Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair.
Proceedings of the National Academy of Sciences of the United States of America - 22 Apr 2014
Swaggart Kayleigh A, Demonbreun Alexis R, Vo Andy H, Swanson Kaitlin E, Kim Ellis Y, Fahrenbach John P, Holley-Cuthrell Jenan, Eskin Ascia, Chen Zugen, Squire Kevin, Heydemann Ahlke, Palmer Abraham A, Nelson Stanley F, McNally Elizabeth M
Abstract excerpt
Many monogenic disorders, including the muscular dystrophies, display phenotypic variability despite the same disease-causing mutation. To identify genetic modifiers of muscular dystrophy and its associated cardiomyopathy, we used quantitative trait locus mapping and whole genome sequencing in a mouse model. This approach uncovered a modifier locus on chromosome 11 associated with sarcolemmal membrane damage and...
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