Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
نویسندگان
چکیده
منابع مشابه
Congenital fibre type disproportion myopathy
Nine children with congenital fibre type disproportion (CFTD) are described. Their muscle biopsies contained type 1 fibres which were smaller than the largest type 2 fibres by at least 13.5%. Attention is drawn to the variable natural history of this disorder which generally carries a good prognosis but may sometimes be associated with fatal respiratory problems. For important therapeutic, gene...
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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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We describe the successful use of the short-acting, non-depolarizing neuromuscular blocking agent, mivacurium, in a 53-yr-old female patient with late onset congenital myopathy, undergoing elective submucous resection of the inferior turbinates. She was unable to climb stairs and walking was limited to periods of 15 min because of generalized weakness, fatigue and shortness of breath. A Datex R...
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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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From the Departments of Pediatrics, Radiology anid Pathology, University of Minnesota, Minnieapolis, Minnesota, and the Department of Pathology, The Chlirles T. Miller h-lospitail, St. Panl, Minnesota. This study wx as supported hy Researel Grant HE 5694 and Research Training Grant 5T1-HE .5570 from the National Heart Institute, National Institutes of fHeailth, U. S. Publie Health Service. Dr. ...
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ژورنال
عنوان ژورنال: Acta Neuropathologica
سال: 2016
ISSN: 0001-6322,1432-0533
DOI: 10.1007/s00401-016-1656-8