نتایج جستجو برای: myotonic discharges
تعداد نتایج: 16638 فیلتر نتایج به سال:
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...
BACKGROUND Previous investigations in three families have shown that proximal myotonic myopathy (PROMM) is not linked to the gene loci for myotonic dystrophy (DM) or to the loci of the genes of the muscle sodium and chloride channels associated with other myotonic disorders. It is important to extend our clinical knowledge of this interesting new disorder by studying other families. PATIENTS ...
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...
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