منابع مشابه
Myotonic dystrophy: time for evidence-based therapy.
Lund and colleagues report on the association between cardiac disease and myotonic dystrophy using data derived from Danish patient registries. The major finding that myotonic dystrophy is strongly associated with cardiac disease throughout life emphasizes the importance of continuous cardiac follow-up and the urgent need for prevention and treatment of cardiac complications in this disease. Th...
متن کاملMyotonic 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 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 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...
متن کاملMyotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is a distal myopathy and a multisystem disease occurring with an incidence of 1/8000, as a result of a CTG trinucleotide repeat expansion in the serinetreonine-protein kinase (DMPK) coding gene on chromosome 19q13.3. In DM1 patients the length of the CTG expansion ranges from 50 to 4000. Disease severity correlates with repeat length and the phenomenon of genetic...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Current Opinion in Genetics & Development
سال: 2017
ISSN: 0959-437X
DOI: 10.1016/j.gde.2017.03.007