Dystrophin is the central protein of the dystrophin-glycoprotein complex (DGC) in skeletal
and heart muscle cells. Dystrophin connects the actin cytoskeleton to the extracellular matrix …

The limb-girdle muscular dystrophies (LGMD) are a collection of genetic diseases united in
their phenotypical expression of pelvic and shoulder area weakness and wasting. More than …

Limb-girdle muscular dystrophy 2E/R4 is caused by mutations in the β-sarcoglycan (SGCB)
gene, leading to SGCB deficiency and consequent muscle loss. We developed a gene …

Sarcoglycanopathies are the most severe forms of autosomal recessive limb-girdle muscular
dystrophies (LGMDs), constituting about 10–25% of LGMDs. The clinical phenotype is …

PURPOSE OF REVIEW The limb-girdle muscular dystrophies (LGMDs) are a group of
inherited muscle disorders with a common feature of limb-girdle pattern of weakness …

Skeletal muscle can regenerate from muscle stem cells and their myogenic precursor cell
progeny, myoblasts. However, precise gene editing in human muscle stem cells for …

Limb-girdle muscular dystrophy R3, a rare genetic disorder affecting the limb proximal
muscles, is caused by mutations in the α-sarcoglycan gene (Sgca) and aggravated by an …

Sarcoglycanopathies are a group of recessive limb-girdle muscular dystrophies,
characterized by progressive muscle weakness. Sarcoglycan deficiency produces instability …

Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular
dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by …

Objectives Immune-mediated necrotizing myopathy (IMNM) is the most severe idiopathic
inflammatory myopathy (IIM) and early aggressive poly-immunotherapy is often required to …