کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3081202 1581085 2007 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
چکیده انگلیسی
Mutations in dynamin 2 (DNM2), an ubiquitously-expressed large GTPase, cause autosomal dominant centronuclear myopathy (DNM2-CNM) and AD Charcot-Marie-Tooth disease type 2B (DNM2-CMT2B). We report a series of 5 patients from the same family who all presented with dominant centronuclear myopathy, mild cognitive impairment, mild axonal peripheral nerve involvement, and the novel E368Q mutation in the DNM2 gene. This study suggests that the phenotypes of dynamin 2 related centronuclear myopathy and Charcot-Marie-Tooth disease overlap and that DNM2 mutations may alter cerebral function. This report extends the clinical knowledge of DNM2-centronuclear myopathy and shows that the role of DNM2 mutations in the central nervous system should be further studied.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 17, Issues 11–12, December 2007, Pages 955-959
نویسندگان
, , , , , , , , ,