کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6041635 | 1189308 | 2013 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia
ترجمه فارسی عنوان
وولوزین رول حاوی جهش پروتئینی در یک خانواده سوئیس با میوپاتی و ضعف ذاتی جسمی است
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
چکیده انگلیسی
Inclusion body myopathy associated with Paget's disease of the bone and frontotemporal dementia is a rare but highly penetrant autosomal dominant progressive disorder linked to mutations in valosin containing protein (VCP). Here, we characterize a novel mutation in the linker 1 domain of VCP leading to inclusion body myopathy and/or frontotemporal dementia in 3 generations of a Swiss family. A detailed history of several years of clinical follow-up and electrophysiological, radiological and pathological findings are presented. Five out of 6 individuals suffered from progressive myopathy and 2 out of 6 from frontotemporal dementia, respectively. A radiologically suspected Paget's disease of the bone could not been confirmed at autopsy. This case study illustrates that only a subset of individuals shows the full triad of the disease complex and that clinicopathological findings are - when interpreted apart from familial history - hard to distinguish from sporadic inclusion body myositis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 23, Issue 2, February 2013, Pages 149-154
Journal: Neuromuscular Disorders - Volume 23, Issue 2, February 2013, Pages 149-154
نویسندگان
Anne-Kathrin Peyer, Jochen Kinter, Jürgen Hench, Stephan Frank, Peter Fuhr, Sandra Thomann, Arne Fischmann, Stefan Kneifel, Pilar Camaño, Adolfo López de Munain, Michael Sinnreich, Susanne Renaud,