Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression
نویسندگان
چکیده
منابع مشابه
Congenital myopathy with cytoplasmic bodies.
Since early infancy, a 15-year-old girl had suffered from an apparently static neuromuscular disorder that chiefly afflicted her proximal muscles but did not spare her distal ones. Her CPK values had repeatedly been mildly elevated and her electromyogram had been considered "myopathic". There were no similar neuromuscular disorders in the family. Quadriceps muscle biopsy showed a type I myofibe...
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INTRODUCTION Congenital myopathies (CM) often affect contractile proteins of the sarcomere, which could render patients susceptible to exercise-induced muscle damage. We investigated if exercise is safe and beneficial in patients with CM. METHODS Patients exercised on a stationary bike for 30 minutes, three times weekly, for 10 weeks at 70% of their maximal oxygen uptake (VO2max). Creatine ki...
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It has been increasingly apparent in recent years that in addition to cases which fall into recognizable categories of muscle disease, a number of less common disorders occur from time to time which do not correspond to the accepted descriptions. Some of these appear to be metabolic in origin and can be elucidated, at least in part, by modern methods of investigation (McArdle, 1951) while other...
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We report a 5-year-old girl with a unique neuromuscular disorder manifested by early onset of the disease, delayed motor development, joint contractures, dysmorphy, cobbler's chest, generalized muscle hypoplasia and weakness. Morphological examination revealed muscle cell immaturity and the appearance of multilamellar myelin-like structures within and outside the sarcolemma. Overexpression of a...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2018
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000267