کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3081623 | 1189382 | 2008 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Distal lipid storage myopathy due to PNPLA2 mutation
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Distal myopathy is a group of heterogeneous disorders affecting predominantly distal muscles usually appearing from young to late adulthood with very rare cardiac complications. We report a 27-year-old man characterized clinically by distal myopathy and dilated cardiomyopathy, pathologically by lipid storage, and genetically by a PNPLA2 mutation. The patient developed weakness in his lower legs and fingers at age 20 years. Physical examination at age 27 years revealed muscle weakness and atrophy predominantly in lower legs and hands, and severe dilated cardiomyopathy. The patient had a homozygous four-base duplication (c.475_478dupCTCC) in exon 4 of PNPLA2.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 18, Issue 8, August 2008, Pages 671–674
Journal: Neuromuscular Disorders - Volume 18, Issue 8, August 2008, Pages 671–674
نویسندگان
Aya Ohkuma, Ikuya Nonaka, May Christine V. Malicdan, Satoru Noguchi, Satoru Ohji, Kyoichi Nomura, Hideo Sugie, Yukiko K. Hayashi, Ichizo Nishino,