Electrophysiologic study of a family with myotonic dystrophy.
نویسندگان
چکیده
منابع مشابه
Clinical, electrophysiologic and pathologic findings in 10 patients with myotonic dystrophy 2.
BACKGROUND Myotonic dystrophy type 2 (DM2) is an autosomal dominant, multisystem disorder caused by a CCTG tetranucleotide repeat expansion located in intron 1 of the zinc finger protein 9 gene (ZNF9 gene) on chromosome 3q 21.3. OBJECTIVES To describe the clinical, electrophysiologic and pathologic findings in patients with myotonic dystrophy 2. METHODS We evaluated 10 patients genetically,...
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An unquiet life. Memoirs of a physician and cardiologist. This book is of unusual interest. It is not a history of cardiology in Belfast in the last forty years, though that is touched on in some of its aspects. It is the self-revelation of the remarkable man and physician who revolutionised the practice of cardiology in Belfast, in Ulster, and ultimately the world. He may not have meant it, bu...
متن کاملmyotonic dystrophy
SYNOPSIS A case of myotonic dystrophy accompanied by alveolar hypoventilation and hypersomnia is presented. Radiological studies and EMG examination of the intercostal muscles demonstrated that the respiratory muscles were affected by the disease, while polygraphic recordings showed that the alveolar hypoventilation and pulmonary hypertension worsened during sleep. The hypersomnia preceded the ...
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We have examined the hypothesis that the severe congenital form of myotonic dystrophy is caused by genomic imprinting at the level of differential DNA methylation of maternal and paternal alleles. Probes encompassing the 5', central, and 3' regions of the myotonic dystrophy protein kinase gene were used on blots of blood DNA from congenital and adult onset patients, digested with combinations o...
متن کاملEmery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals
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ژورنال
عنوان ژورنال: Japanese Journal of Electrocardiology
سال: 1985
ISSN: 1884-2437,0285-1660
DOI: 10.5105/jse.5.355