To withstand the rigors of contraction, muscle fibers have specialized protein complexes that
buffer against mechanical stress and a multifaceted repair system that is rapidly activated …

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are
neuromuscular disorders that primarily affect boys due to an X-linked mutation in the DMD …

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 …

The mammalian genome contains four voltage-gated sodium channel genes that are
primarily expressed in the central nervous system: SCN1A, SCN2A, SCN3A and SCN8A …

Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder generally caused by
out-of-frame mutations in the DMD gene. In contrast, in-frame mutations usually give rise to …

Duchenne muscular dystrophy (DMD) is a lethal muscle disease caused by dystrophin
deficiency. In normal muscle, dystrophin helps maintain sarcolemmal stability. Dystrophin …

Duchenne muscular dystrophy (DMD) is a dystrophin-deficient lethal muscle disease. To
date, the catastrophic muscle wasting phenotype has only been seen in dystrophin-deficient …

1.1. Aims The aim of this workshop was to assess the status of NBS programs for DMD
around the world, and to assess the technical, ethical, and practical aspects that need …

We report two patients with a new phenotype of dysferlinopathy presenting as congenital
muscular disease. Both patients showed weakness in proximal lower limbs and neck flexor …

Sarcoglycans are a group of single-pass transmembrane glycoproteins. In striated muscle,
sarcoglycans interact with dystrophin and other dystrophin-associated proteins (DAPs) to …