نتایج جستجو برای: muscular dystrophy

تعداد نتایج: 52759  

2017

Received Aug 29, 2017 Revised Oct 31, 2017 Accepted Nov 14, 2017 Muscular dystrophy is a rare genetic disorder that affects the muscular system which deteriorates the skeletal muscles and hinders locomotion. In the finding of genetic disorders such as Muscular dystrophy, the disease is identified based on mutations in the gene sequence. A new model is proposed for classifying the disease accura...

Journal: :Biochimica et biophysica acta 2007
Kyle J Roux Brian Burke

Muscular dystrophies are a heterogeneous group of disorders linked to defects in 20-30 different genes. Mutations in the genes encoding a pair of nuclear envelope proteins, emerin and lamin A/C, have been shown to cause the X-linked and autosomal forms respectively of Emery-Dreifuss muscular dystrophy. A third form of muscular dystrophy, limb girdle muscular dystrophy 1b, has also been linked t...

Journal: :FEBS letters 2005
Fumiaki Saito Martina Blank Jörn Schröder Hiroshi Manya Teruo Shimizu Kevin P Campbell Tamao Endo Makoto Mizutani Stephan Kröger Kiichiro Matsumura

Dystroglycan is a central component of dystrophin-glycoprotein complex that links extracellular matrix and cytoskeleton in skeletal muscle. Although dystrophic chicken is well established as an animal model of human muscular dystrophy, the pathomechanism leading to muscular degeneration remains unknown. We show here that glycosylation and laminin-binding activity of alpha-dystroglycan (alpha-DG...

2002
Corrado Angelini

The muscular dystrophies are inherited muscle disorders characterized by weakness and progressive muscle wasting. They can be subdivided in different types, including congenital forms in accordance to distribution of weakness: Duchenne, Becker, Emery-Dreyfuss, limbgirdle, distal, facio-scapulo-humeral, oculofaringeal dystrophy. In this review we will deal with the most recent advances in dystro...

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Journal: :European Journal of Human Genetics 2002

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