The term muscular dystrophy covers a diverse group of inherited disorders characterized by
progressive muscle weakness and wasting in which the primary defect becomes …

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of inherited
neuromuscular disorders characterized by proximal muscular weakness of the pelvic and …

Limb-girdle muscular dystrophy type 2D (LGMD 2D) is an autosomal recessive disorder
caused by mutations in the α-sarcoglycan gene. To determine how α-sarcoglycan deficiency …

Autosomal recessive limb-girdle muscular dystrophies (AR LGMDs) are a genetically
heterogeneous group of disorders that affect mainly the proximal musculature 1. There are …

Recently, a single gene, DYSF, has been identified which is mutated in patients with limb-
girdle muscular dystrophy type 2B (LGMD2B) and with Miyoshi myopathy (MM). This is of …

Mutations in genes encoding for the sarcoglycans, a subset of proteins within the dystrophin–
glycoprotein complex, produce a limb-girdle muscular dystrophy phenotype; however, the …

To investigate mechanisms in the pathogenesis of cardiomyopathy associated with
mutations of the dystrophin–glycoprotein complex, we analyzed genetically engineered …

Atrial fibrillation (AF) and heart failure (HF) contribute to about 45% of all cardiovascular
disease (CVD) deaths in the USA and around the globe. Due to the complex nature …

The term 'limb girdle muscular dystrophy'(LGMD) was first used in the seminal paper by
Walton and Nattrass in 1954, were they identified LGMD as a separate clinical entity In …

PEX5 encodes the type-1 peroxisomal targeting signal (PTS1) receptor, one of at least 15
peroxins required for peroxisome biogenesis. Pex5p has a bimodal distribution within the …