Most single-gene diseases, including muscular dystrophy, display a nonuniform phenotype.
Phenotypic variability arises, in part, due to the presence of genetic modifiers that enhance …

γ-Sarcoglycan is a transmembrane, dystrophin-associated protein expressed in skeletal and
cardiac muscle. The murine γ-sarcoglycan gene was disrupted using homologous …

Cardiomyopathy (CM) is a primary degenerative disease of myocardium and is traditionally
categorized into hypertrophic and dilated CMs (HCM and DCM) according to its gross …

Монография посвящена современным возможностям ДНК-диагностики и основанного
на ней медико-генетического консультирования при наследственных заболеваниях …

Background Some patients with autosomal recessive limb-girdle muscular dystrophy have
mutations in the genes coding for the sarcoglycan proteins (α-, β-, γ-, and δ-sarcoglycan). To …

Muscular dystrophies are characterised by continuous cycles of degeneration and
regeneration resulting in an eventual diminution of the muscle mass and extensive fibrosis …

Dystroglycan provides a crucial linkage between the cytoskeleton and the basement
membrane for skeletal muscle cells. Disruption of this linkage leads to various forms of …

The BIO14. 6 hamster is a widely used model for autosomal recessive cardiomyopathy.
These animals die prematurely from progressive myocardial necrosis and heart failure. The …

The concept of limb-girdle muscular dystrophy (LGMD) is changing rapidly due to the
advances in molecular genetics. Recently, seven different gene loci have been described …

The dystrophin-glycoprotein complex (DGC) serves as a link between cytoplasmic actin, the
membrane and the extracellular matrix of striated muscle. Genetic defects in genes …