Skeletal muscle damaged by injury or by degenerative diseases such as muscular dystrophy is able to regenerate new muscle fibers. Regeneration mainly depends upon satellite cells, myogenic progenitors localized between the basal lamina and the muscle fiber membrane. However, other cell types outside the basal lamina, such as pericytes, also have myogenic potency. Here, we discuss the main prope...

Immobilization and disuse of a body part is quite common in the rehabilitation of patients suffering from injuries or diseases. There are a number of deleterious effects, including systems and organs such as the respiratory, cardiac and skeletal muscle. The clinical and physiological principal aspects revised in this short review are: muscular atrophy, general metabolic alterations, increase of...

The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have been identified that are involved in various muscle-wasting and neuromuscular disorders. Human genetic studies complemented by animal model syst...

Directed cell lineage differentiation in vitro combined with genetic modification approaches provides an enormous range of possibilities to treat muscular degenerative diseases such as muscular dystrophies (MDs). Currently, no effective therapy is available to treat any form of MDs, which are characterized by progressive muscle wasting and weakness [1]. The limited efficacy of conventional drug...

Autophagy has recently emerged as an important cellular process for the maintenance of skeletal muscle health and function. Excessive autophagy can trigger muscle catabolism, leading to atrophy. In contrast, reduced autophagic flux is a characteristic of several muscle diseases, including Duchenne muscular dystrophy, the most common and severe inherited muscle disorder. Recent evidence demonstr...

Muscular dystrophies are monogenetic diseases that are often characterized by the degeneration of both cardiac and skeletal muscle. Gene therapy to correct the mutated gene has shown promise in both animal models and clinical trials; however, current gene delivery strategies are limited to the introduction of the corrected gene into only one tissue. Strategies to target multiple striated muscle...

Congenital myopathies and muscular dystrophies constitute a genetically and phenotypically heterogeneous group of rare inherited diseases characterized by muscle weakness and atrophy, motor delay and respiratory insufficiency. To date, curative care is not available for these diseases, which may severely affect both life-span and quality of life. We discuss prenatal diagnosis and genetic counse...

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands Teresinha Evangelista , Conrad C. Weihl , Virginia Kimonis , Hanns Lochmüller * on behalf of the VCP related diseases Consortium # a John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle Uni...

C ARDIAC muscle is commonly affected in muscular dy~trophies.l-~ X-linked Duchenne's inuscular dystrophy and Becker's muscular dystrophy are caused by mutations in the gene encoding dystrophin,5,6 a membrane cytoskeletal p r ~ t e i n . ~ In skeletal and cardiac muscle, dystrophin is associated with a large oligomeric complex of sarcolemmal g lycopr~te ins .~~~ This dystrophin-glycoprotein comp...

Muscular dystrophies are genetically diverse but share common phenotypic features of muscle weakness, degeneration, and progressive decline in muscle function. Previous work has focused on understanding how disruptions in the dystrophin-glycoprotein complex result in muscular dystrophy, supporting a hypothesis that the muscle sarcolemma is fragile and susceptible to contraction-induced injury i...