Lookup NU author(s): Dr Alison Blain,
Professor Volker Straub
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Mutations in the δ-sarcoglycan gene cause limb-girdle muscular dystrophy 2F (LGMD2F), an autosomal recessive disease that causes progressive weakness and wasting of the proximal limb muscles and often has cardiac involvement. Here we review the clinical implications of LGMD2F and discuss the current understanding of the putative mechanisms underlying its pathogenesis. Preclinical research has benefited enormously from various animal models of δ-sarcoglycan deficiency, which have helped researchers to explore therapeutic approaches for both muscular dystrophy and cardiomyopathy.
Author(s): Blain AM, Straub VW
Publication type: Review
Journal: Skeletal Muscle
Print publication date: 17/03/2011
ISSN (electronic): 2044-5040