Electroencephalographic studies in hereditary myopathy
نویسندگان
چکیده
منابع مشابه
Electroencephalographic Studies in Hereditary Myopathy.
Recent reports by a number of authors have suggested that electroencephalographic (E.E.G.) abnormalities are often found in patients with progressive muscular dystrophy. Winfield, Britt, and Raskind (1958) reported the finding of nine abnormal records in 12 children with muscular dystrophy subjected to E.E.G. study. The abnormalities consisted of the pattern designated by Gibbs and Gibbs (1952)...
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A familial myopathy affecting a man, his three daughters, and one of his brothers is reported. The quadriceps muscle was predominantly involved, with aching pain as an early feature, and later prominent areas of hypertrophy projecting from patches of atrophy gave the quadriceps a most striking and unusual appearance. Presentation was in adult life, and the course was relatively benign, pelvic g...
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Hereditary inclusion body myopathy type 2 (HIBM2) is a myopathy characterized by progressive muscle weakness with early adult onset. The disease is the result of a recessive mutation in the Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene (GNE), which results in reduced enzyme function and sialic acid levels. A majority of individuals with HIBM2 are from Iranian-Jewish or ...
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OBJECTIVE To assess whether hereditary myopathy with early respiratory failure (HMERF) due to the c.951434T>C; (p.Cys31712Arg) TTN missense mutation also includes a cardiac phenotype. METHOD Clinical cohort study of our HMERF cohort using ECG, 2D echocardiogram, and cross-sectional cardiac imaging with MRI or CT. RESULTS We studied 22 participants with the c.951434T>C; (p.Cys31712Arg) TTN m...
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Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown. To elucidate the pathological mechanisms leading from the mutated GNE to the HIBM phenotype, we attempted to identify and characterize early occurri...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1965
ISSN: 0022-3050
DOI: 10.1136/jnnp.28.2.109