Pathogenic mechanisms of myotonic dystrophy
نویسندگان
چکیده
منابع مشابه
Pathogenic mechanisms of myotonic dystrophy.
DM (myotonic dystrophy) is a dominantly inherited genetic disorder that is the most common cause of muscular dystrophy in adults affecting 1 in 8500 individuals worldwide. Different microsatellite expansions in two loci cause different forms of the disease that share similar features: DM1 (DM type 1) is caused by a tri- (CTG) nucleotide expansion within the DMPK (dystrophia myotonica protein ki...
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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 ...
متن کاملMyotonic dystrophy: emerging mechanisms for DM1 and DM2.
Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. Myotonic dystrophy type 1 (DM1) is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK (myotonic dystrophy protein kinase) on chromosome 19q13.3. Myotonic dystrophy type 2 (DM2) is caused by an unstable CCTG repeat in intron 1 of ZNF9 (zinc finger protein 9) o...
متن کاملOcular motor myotonic phenomenon in myotonic dystrophy.
OBJECTIVE To detect disconjugate ocular motor abnormalities and a possible extraocular muscle myotonic phenomenon in patients with myotonic dystrophy (MyD). METHODS The magnetic scleral search coil technique was used to record monocularly the small (25 degrees ) and large (50 degrees ) saccades, which were paced to two interstimulus intervals (ISIs), one short (1 s), the other long (5 s). The...
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ژورنال
عنوان ژورنال: Biochemical Society Transactions
سال: 2009
ISSN: 0300-5127,1470-8752
DOI: 10.1042/bst0371281