Ontology highlight
ABSTRACT:
SUBMITTER: Chase TH
PROVIDER: S-EPMC2789639 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
Chase Thomas H TH Cox Gregory A GA Burzenski Lisa L Foreman Oded O Shultz Leonard D LD
The American journal of pathology 20091029 6
Limb-girdle muscular dystrophy 2B, Miyoshi myopathy, and distal myopathy of anterior tibialis are severely debilitating muscular dystrophies caused by genetically determined dysferlin deficiency. In these muscular dystrophies, it is the repair, not the structure, of the plasma membrane that is impaired. Though much is known about the effects of dysferlin deficiency in skeletal muscle, little is known about the role of dysferlin in maintenance of cardiomyocytes. Recent evidence suggests that dysf ...[more]