Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
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چکیده
منابع مشابه
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
The aim of this retrospective study was to assess respiratory and cardiac function in a large cohort of patients with congenital muscular dystrophies (CMD) with reduced glycosylation of alphadystroglycan (α-DG). Thirteen of the 115 patients included in the study died between the age of 1 month and 20 years. The age at last follow up of the surviving 102 ranged between 1 year and 68 years (media...
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Dystroglycan (DG) is an adhesion molecule composed of two subunits, alpha and beta, that are produced by the post-translational cleavage of a single precursor molecule. DG is a pivotal component of the dystrophin-glycoprotein complex (DGC), which connects the extracellular matrix to the cytoskeleton in skeletal muscle and many other tissues. Some muscular dystrophies are caused by mutations of ...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2012
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2012.05.006