Article
FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.
Expert reviews in molecular medicine - 16 Mar 2017
Jaka Oihane, Casas-Fraile Leire, Azpitarte Margarita, Aiastui Ana, López de Munain Adolfo, Sáenz Amets
Abstract excerpt
Limb-girdle muscular dystrophy type 2A (LGMD2A) is characterised by muscle wasting and progressive degeneration of proximal muscles because of mutations in the CAPN3 gene. However, the underlying pathophysiological mechanisms of muscle degeneration are still not well understood. The objective of this study was to assess the relevance of genes with differential expression in the muscle of LGMD2A patients. For this...
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