Hereditary muscular dystrophies

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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...

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The 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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Hereditary Retinal Dystrophies

The retina is a many layered structure and retinal dystrophies may affect any of the layers. From the vitreous to the choroid these are the internal limiting membrane, nerve fibre layer, ganglion cell layer, inner plexiform layer, inner nuclear layer, outer plexiform layer, outer nuclear layer, external limiting membrane, rod and cone inner and outer segments and the retinal pigment epithelium ...

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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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The 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: Bulletin of Siberian Medicine

سال: 2009

ISSN: 1819-3684,1682-0363

DOI: 10.20538/1682-0363-2009-3(2)-72-77