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...

Effective planning of clinical trials requires an appropriate number of patients who fulfil given inclusion criteria. In the case of so called "orphan" diseases, such as Duchenne and Becker muscular dystrophy (DMD/BMD), the number of suitable patients within one country is usually limited. We developed a detailed registry of Czech and Slovak DMD/BMD patients which may contribute to cooperation ...

Duchenne muscular dystrophy is a severe and currently incurable progressive neuromuscular condition, caused by mutations in the DMD gene that result in the inability to produce dystrophin. Lack of dystrophin leads to loss of muscle fibres and a reduction in muscle mass and function. There is evidence from dystrophin-deficient mouse models that increasing levels of utrophin at the muscle fibre s...

a genetic disease with an autosomal recessive mode of inheritance (1, 2). It is most common in Japanese patients and is the second most common form of muscular dystrophy in Japan, after Duchenne muscular dystrophy (2). FCMD causes severe mental retardation, seizures, muscular weakness soon after birth, and pathologic muscular changes that are consistent with muscular dystrophy. The typical clin...

BACKGROUND Facioscapulohumeral muscular dystrophy (FSHD) is the 3(rd) most common form of muscular dystrophy. Effective treatments for any of the muscular dystrophies have yet to be realized. This report describes such a treatment. CASE REPORT A 66 year old female was diagnosed with osteoporosis. She had been diagnosed with FSHD muscular dystrophy a number of years previously by both genetic ...

Muscular dystrophies are a heterogeneous inherited group of disorders characterized by variable distribution weakness, various ages onset, the pattern inheritance, rate progression, and clinical severity. Muscle degeneration regeneration characterize muscle biopsy these typically associated with elevated serum creatine kinase. Objective: We wanted to study characteristics patients genetic corre...

Duchenne and Becker muscular dystrophies are X-linked allelic disorders in which the association of central nervous system dysfunction, typically in the form of mental retardation, is a well recognized feature. They are both due to mutations in the dystrophin gene, whose corresponding protein products are expressed both in the muscle and central nervous system. We have observed an increased fre...

Yiş U, Dixit V, Işıkay S, Karakaya M, Baydan F, Diniz G, Polat İ, Hız-Kurul S, Çırak S. Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2. Turk J Pediatr 2017; 59: 338-341. Laminin α2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involveme...

Glycosylation defects of alpha-dystroglycan (alpha-DG) cause various muscular dystrophies. We performed clinical, pathological and genetic analyses of 62 Japanese patients with congenital muscular dystrophy, whose skeletal muscle showed deficiency of glycosylated form of alpha-DG. We found, the first Japanese patient with congenital muscular dystrophy 1C with a novel compound heterozygous mutat...