کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3036921 1184390 2014 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report
ترجمه فارسی عنوان
سندرم لی با دیستروفی عضلانی مادرزادی فوکویام: گزارش مورد
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
چکیده انگلیسی

We report the first case of Leigh syndrome (LS) with Fukuyama congenital muscular dystrophy (FCMD). A neonate suffered from lactic acidosis and subsequently presented with poor feeding, muscle weakness, hypotonia, cardiopulmonary dysfunction, and hydrocephalus. He died at 17 months. The findings of brain magnetic resonance imaging indicated some specific features of both LS and FCMD, and FCMD gene mutation was detected. Decreased mitochondrial respiratory complex I and II activity was noted. Mitochondrial DNA sequencing showed no pathogenic mutation. A case with complex I + II deficiency has rarely been reported, suggesting a nuclear gene mutation.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 36, Issue 8, September 2014, Pages 730–733
نویسندگان
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