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Article

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.

Muscle & nerve - 1 Feb 2010

Klinge Lars, Harris John, Sewry Caroline, Charlton Richard, Anderson Louise, Laval Steve, Chiu Yen-Hui, Hornsey Mark, Straub Volker, Barresi Rita, Lochmüller Hanns, Bushby Kate

Abstract excerpt

Mutations in the dysferlin gene cause limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and distal anterior compartment myopathy. Dysferlin mainly localizes to the sarcolemma in mature skeletal muscle where it is implicated in membrane fusion and repair. In different forms of muscular dystrophy, a predominantly cytoplasmic localization of dysferlin can be observed in regenerating myofibers, but the...

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Identifiers

PMID: 20082313
DOI: 10.1002/mus.21166

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