Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder of muscle in children. The DMD gene product, "dystrophin", is absent from DMD, while the allelic disease, Becker muscular dystrophy (BMD), exhibits dystrophin of abnormal size and/or quantity. But we are still uncertain about the scenario that internally deleted (or duplicated) dystrophin in BMD possesses its carboxy (C)-t...

Duchenne muscular dystrophy (DMD) is the most common and lethal genetic muscle disorder, caused by recessive mutations in the dystrophin gene. One of every 3,500 males suffers from DMD, yet no treatment is currently available. Genetic therapeutic approaches, using primarily myoblast transplantation and adenovirus-mediated gene transfer, have met with limited success. Adeno-associated virus (AAV...

A Spanish family is reported with dystrophinopathy of myalgia and cramps syndrome type. There were five affected males and three females, and also six asymptomatic carriers. Muscle biopsy showed a dystrophic pattern, but immunohistochemistry carried out with three anti-dystrophin antibodies was normal. Dystrophin analysis by western blot revealed a dystrophin of reduced quantity and molecular w...

Background: Duchenne muscular dystrophy (DMD) is an inherited genetic disorder caused by a mutation in the dystrophin gene that results progressive skeletal, respiratory and cardiac muscle weakness ultimately leads to loss of ambulation as well heart failure. About 13% DMD cases are point mutations leading premature stop codon (nmDMD). Ataluren was approved Brazil for treatment nmDMD, but both ...

Duchenne muscular dystrophy is a very severe muscle disease that is characterized by progressive skeletal muscle wasting. Duchenne muscular dystrophy is provoked by mutations in the gene encoding the protein dystrophin, which lead to the total absence of this protein in skeletal muscles. In normal skeletal muscle, dystrophin is located underneath the sarcolemma, and interacts with the F-actin c...

Mutations in the dystrophin gene cause Duchenne muscular dystrophy and result in the loss of dystrophin and the entire dystrophin-glycoprotein complex (DGC) from the sarcolemma. We show that sarcospan (SSPN), a unique tetraspanin-like component of the DGC, ameliorates muscular dystrophy in dystrophin-deficient mdx mice. SSPN stabilizes the sarcolemma by increasing levels of the utrophin-glycopr...


 BACKGROUND: Duchenne muscular dystrophy is a neuromuscular disease caused by deficiency of dystrophin, which causes the skeletal and cardiac muscles to degenerate. Targeted deletion DMD, RIPK3, MLKL has been shown in several studies prevent dystrophin necroptosis, critical hypothesis etiology dystrophy. AIM: This research aimed see if using CRISPR/Cas9 target an effective therapeutic it ...

Duchenne muscular dystrophy (DMD) is a progressive degenerative muscular disease that is due to mutations in the dystrophin gene. Neither the function of dystrophin nor the physiopathology of the disease have been clearly established yet. Several groups have reported elevated calcium concentrations in the mdx mouse model of DMD, but the effect of calcium levels on the progression of the disease...

Duchenne muscular dystrophy (DMD) affects approximately 1 in 3,500 live male births [1]. It is caused by a large variety of mutations in the dystrophin gene. Because of these mutations, the body can no longer make dystrophin which is a protein important for stabilisation of the muscle cell during a contraction. Without dystrophin, muscle cells are damaged and slowly replaced by fat and scar tis...