The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs: weakness, motor delay, and respiratory and bulbar dysfunction. The myopathies are caused by genetic defects in the contractile apparatus of muscle, and defined by distinctive histochemical or ultrastructural changes on muscle biopsy. The muscular dystrop...

Muscular dystrophies are often caused by mutations in cytoskeletal proteins that render cells more susceptible to strain-induced injury in mechanically active tissues such as skeletal or cardiac muscle. In this issue of the JCI, Han et al. report that dysferlin participates in membrane resealing in cardiomyocytes and that exercise results in increased membrane damage and disturbed cardiac funct...

The muscular dystrophies and congenital myopathies are inherited diseases of the skeletal muscle, which lead to a loss of muscle function and are often fatal. While many of the loci involved are already known, these conditions remain incurable, and genetic models are being developed in an effort to understand the pathological mechanisms involved. Recently several papers have shown that the zebr...

Muscular dystrophies are a group of diseases that primarily affect striated muscle and are characterized by the progressive loss of muscle strength and integrity. Major forms of muscular dystrophies are caused by the abnormalities of the dystrophin glycoprotein complex (DGC) that plays crucial roles as a structural unit and scaffolds for signaling molecules at the sarcolemma. α-Dystrobrevin is ...

26 In healthy individuals post-exercise protein supplementation increases muscle protein anabolism. 27 In patients with muscular dystrophies, aerobic exercise improves muscle function, but the effect of 28 exercise on muscle protein balance is unknown. 29 Therefore, we investigated 1) muscle protein balance before, during, and after exercise and 2) the 30 effect of post-exercise protein-carbohy...

Submit Manuscript | http://medcraveonline.com Facioscapulohumeral muscular dystrophy (FSHD) is the third most common myopathy found in adults, with an overall incidence of more than 1:20000 (source: Orphanet). It is classified among progressive muscular dystrophies, characterized by muscular fiber necrosis and degeneration giving rise to progressive muscular weakness and atrophy. Weakness usual...

Cardiac muscle involvement is not a rare complication in muscle disorders as is most commonlyseen in muscular dystrophies. Hypertrophic and/or dilated cardiomyopathy progresses in parallel with disease progression in most of patients with Duchenne and Becker muscular dystrophies, though cardiac failure mayprecede skeletal muscle symptoms, especially in Becker form. Cardiac muscle involvement is...

Muscular dystrophies are inherited myogenic disorders accompanied by progressive skeletal muscle weakness and degeneration. We previously showed that resveratrol (3,5,4'-trihydroxy-trans-stilbene), an antioxidant and activator of the NAD(+)-dependent protein deacetylase SIRT1, delays the progression of heart failure and prolongs the lifespan of δ-sarcoglycan-deficient hamsters. Because a defect...

Muscular dystrophies primarily affect skeletal muscle. Mutations in a large number of genes, mainly encoding cytoskeletal proteins, cause different forms of dystrophy that compromise patient mobility and quality of life, and in the most severe cases lead to complete paralysis and premature death. Although muscular dystrophies still lack an effective therapy, several novel strategies are enterin...

Limb-girdle muscular dystrophies (LGMDs) is a heterogeneous group of muscular dystrophies that mostly affect the pelvic and shoulder girdle muscle groups. We report here a case of neuromuscular disease associated with Dupuytren's contracture, which has never been described before as cosegregating with an autosomal dominant type of inheritance. Dupuytren's contracture is a common disease, especi...