Key result
δ-Sarcoglycan deficiency causes a complex, multifactorial muscular dystrophy and cardiomyopathy for which current research focuses on correcting calcium overload, vascular dysfunction, and gene defects.
This review summarizes the clinical implications, pathogenesis, and preclinical therapeutic approaches for δ-sarcoglycan-deficient muscular dystrophy and its associated cardiomyopathy.
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.
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Blain et al. (2011) conducted a review in δ-Sarcoglycan-deficient muscular dystrophy (LGMD2F). δ-Sarcoglycan deficiency causes a complex, multifactorial muscular dystrophy and cardiomyopathy for which current research focuses on correcting calcium overload, vascular dysfunction, and gene defects.
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