Myotonic Dystrophy Associated with Insulinoma.
نویسندگان
چکیده
منابع مشابه
Pentamidine reverses the splicing defects associated with myotonic dystrophy.
Myotonic dystrophy (DM) is a genetic disorder caused by the expression (as RNA) of expanded CTG or CCTG repeats. The alternative splicing factor MBNL1 is sequestered to the expanded RNA repeats, resulting in missplicing of a subset of pre-mRNAs linked to symptoms found in DM patients. Current data suggest that if MBNL1 is released from sequestration, disease symptoms may be alleviated. We ident...
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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 کاملThree cases of androgen-dependent disease associated with myotonic dystrophy.
Three cases of androgen-dependent disease in females with myotonic dystrophy are described. Serum androgens in individuals affected by myotonic dystrophy are known to be lower on average than in normal controls. Despite this these three females developed diseases that are androgen dependent, including acne, hidradenitis suppurativa, androgenetic alopecia and keratosis pilaris. These cases suppo...
متن کاملSuccessful catheter ablation against ventricular tachycardia associated with myotonic dystrophy.
Myotonic dystrophy (MD) is characterized by myotonia and muscular dystrophy and cardiac involvement with tachy-arrhythmia is rarely encountered. We report a case of MD complicated with severe left ventricular hypofunction and incessant ventricular tachycardia (VT) with varying heart rates. The morphology of VT suggested that it originated from the right ventricular outflow tract, and electrophy...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 1999
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.38.504