Article
Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy
2 Feb 2012
Abstract excerpt
Dysferlin gene mutations causing LGMD2B are associated with defects in muscle membrane repair. Four stable cell lines have been established from primary human dysferlin-deficient myoblasts harbouring different mutations in the dysferlin gene. We have compared immortalized human myoblasts and myotubes carrying disease-causing mutations in dysferlin to their wild-type counterparts. Fusion of myoblasts into myotubes...
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