منابع مشابه
Myotonic dystrophy
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 کاملCompound loss of muscleblind-like function in myotonic dystrophy
Myotonic dystrophy (DM) is a multi-systemic disease that impacts cardiac and skeletal muscle as well as the central nervous system (CNS). DM is unusual because it is an RNA-mediated disorder due to the expression of toxic microsatellite expansion RNAs that alter the activities of RNA processing factors, including the muscleblind-like (MBNL) proteins. While these mutant RNAs inhibit MBNL1 splici...
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 کاملProgressive cone dystrophy and sensorineural hearing loss.
A 39-year old man presented 13 years ago with a history of progressive loss of vision and photophobia. A full ophthalmological and ENT work-up during several years of follow-up, including psychophysical as well as electrophysiological tests, revealed a progressive cone dystrophy in combination with sensorineural hearing loss. His younger sister presented with very similar features and underwent...
متن کاملPredicting hearing loss in facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy (FSHD) has an estimated prevalence of 4–7 per 100,000 population, making it the third most common type of muscular dystrophy. The classic form of FSHD is characterized by weakness that is slowly progressive and often asymmetric in the face, scapulae, upper arms, lower legs, and abdomen. The age at onset of symptoms varies from infancy to middle age, and li...
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ژورنال
عنوان ژورنال: AUDIOLOGY JAPAN
سال: 1990
ISSN: 1883-7301,0303-8106
DOI: 10.4295/audiology.33.631