Mouse models for muscular dystrophies: an overview
نویسندگان
چکیده
منابع مشابه
overview of muscular dystrophies
muscular dystrophies are inherited disorders that cause progressive muscle weakness (myopathy) and atrophy (loss of muscle mass) due to defects in one or more genes required for normal muscle function. some of the genes responsible for these conditions have been identified .there are a number of different types of muscular dystrophy. the primary symptom for most types is muscle weakness, althou...
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Various muscular dystrophies are associated with the defective glycosylation of alpha-dystroglycan and are known to result from mutations in genes encoding glycosyltransferases. Fukutin-related protein (FKRP) was identified as a homolog of fukutin, the defective protein in Fukuyama-type congenital muscular dystrophy (FCMD), that is thought to function as a glycosyltransferase. Mutations in FKRP...
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The development and use of an increasing number and variety of naturally, transgenic, induced mutant, and genetically engineered immunodeficient mouse and mouse/human hybrids models have been imperative for understanding the gene-driven cellular and molecular mechanisms and pathophysiological manifestations (phenotypes) of immune disorders that are similar to mice and humans. Much more effort i...
متن کاملThe muscular dystrophies.
The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal; facioscapulohumeral; oculopharyngeal; and limb-girdle whic...
متن کاملThe muscular dystrophies.
In 1879 William Gowers, the eminent British neurologist, painted a remarkably lucid word picture of Duchenne muscular dystrophy in his series of lectures on pseudohypertrophic muscular paralysis, published in the Lancet.' This disease, he said, is one of the most interesting, and at the same time most sad, of all those with which we have to deal; interesting because of its peculiar features and...
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ژورنال
عنوان ژورنال: Disease Models & Mechanisms
سال: 2020
ISSN: 1754-8403,1754-8411
DOI: 10.1242/dmm.043562