P.056 Survey of Canadian myotonic dystrophy patients’ access to computer technology
نویسندگان
چکیده
منابع مشابه
Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
متن کاملgenetic analysis of myotonic dystrophy patients
myotonic dystrophy (dm), one of the most common forms of muscular dystrophy, is an inherited disorder of the muscles and other body systems. dm is a progressive genetic disorder with a triplet repeat autosomal mutation that affects an estimated 1 in 8000 people. myotonic dystrophy type 1, also known as steinerts disease, and type 2 caused by mutation in dmpk and cnbp genes, respectively. in eac...
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We read with great interest the article by Mootha et al. concerning a possible correlation between Fuchs’ endothelial corneal dystrophy (FECD) and myotonic dystrophy (MD). We thank the authors because, among the studies we made trying to understand the reason of low intraocular pressure in patients with MD, they cited one study we published in 2010 where we examined the endothelial cells charac...
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 ...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2016
ISSN: 0317-1671,2057-0155
DOI: 10.1017/cjn.2016.160