On the role of dysferlin in striated muscle: membrane repair, t‐tubules and Ca2+ handling
C. J. Quinn,
E. J. Cartwright,
A. W. Trafford
et al.
Abstract:Dysferlin is a 237 kDa membrane‐associated protein characterised by multiple C2 domains with a diverse role in skeletal and cardiac muscle physiology. Mutations in DYSF are known to cause various types of human muscular dystrophies, known collectively as dysferlinopathies, with some patients developing cardiomyopathy. A myriad of in vitro membrane repair studies suggest that dysferlin plays an integral role in the membrane repair complex in skeletal muscle. In comparison, less is known about dysferlin in the h… Show more
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