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Article

Dysferlin and Animal Models for Dysferlinopathy

1 Jan 2012

Abstract excerpt

Dysferlin (DYSF) is involved in the membrane-repair process, in the intracellular vesicle system and in T-tubule development in skeletal muscle. It interacts with mitsugumin 53, annexins, caveolin-3, AHNAK, affixin, S100A10, calpain-3, tubulin and dihydropyridine receptor. Limb-girdle muscular dystrophy 2B (LGMD2B) and Miyoshi myopathy (MM) are muscular dystrophies associated with recessively inherited mutations...

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Identifiers

PMID: 22907980
DOI: 10.1293/tox.25.135

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