Monoclonal antibodies were raised to two regions of calpain 3 (muscle-specific calcium-
activated neutral protease), which is the product of the gene that is defective in limb-girdle …

Background Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin
gene, is lethal. In contrast, dystrophin-deficient mdx mice recover due to effective …

Background: The limb girdle muscular dystrophies (LGMD) are a heterogeneous group of
Mendelian disorders highlighted by weakness of the pelvic and shoulder girdle muscles …

Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a clinically and genetically
heterogenous group of diseases involving at least six different loci. Five genes have already …

The dystrophin-glycoprotein complex (DGC) is critical for muscle membrane stability. The
sarcoglycans are transmembrane proteins within the DGC, and the function of the …

Primary adhalin (or a-sarcoglycan) deficiency due to a defect of the adhalin gene 1ocaIized
on chromosome 17q21 causes an autosomal recessive myopathy. We evaluated 20 patients …

The group of autosomal recessive (AR) muscular dystrophies includes, among others, two
main clinical entities, the limb-girdle muscular dystrophies (LGMDs) and the distal muscular …

Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive
muscular dystrophies in which the primary defect may reside in any of the genes coding for …

The extracellular matrix (ECM) provides a solid scaffold and signals to cells through ECM
receptors. The cell–matrix interactions are crucial for normal biological processes and when …

α-Dystroglycan (α-DG) is a laminin-binding protein and member of a glycoprotein complex
associated with dystrophin that has been implicated in the etiology of several muscular …