منابع مشابه
The 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...
متن کاملoverview 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...
متن کاملThe muscular dystrophies--from genes to proteins.
proteins, which link the activity contracting action and myosin components to the non-contracting structures in the fiber and outside, are defective. In our article we will strictly confine ourselves to this anchoring device which is called the dystrophin glycoprotein complex (DGC). As shown in Fig. 1 (after Lim and Campbell) dystrophin, the gene product defective in DMD, is a large rod-shaped ...
متن کاملThe muscular dystrophies.
The muscular dystrophies are disorders of progressive muscular degeneration and weakness. As a group they display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset. Recent advances in the field include improved methods of diagnosis, continued identification of disease genes, and the development of a ...
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ژورنال
عنوان ژورنال: Cell Stress
سال: 2018
ISSN: 2523-0204
DOI: 10.15698/cst2018.01.121