کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1915764 1535194 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A case of ovarioleukodystrophy without eIF2B mutations
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
A case of ovarioleukodystrophy without eIF2B mutations
چکیده انگلیسی

A new association of Vanishing White Matter (VWM) and premature ovarian failure (POF) was recently described as a sole entity called ovarioleukodystrophy. Seven out of eight patients reported by Fogli et al. had translation initiation factor (eIF2B) mutations, specific to the VWM. The only patient without mutations had a distinctive neurological presentation that included cognitive deterioration without motor signs and white matter abnormalities restricted to the frontal lobe.We describe here a case suggestive of ovarioleukodistrophy carrying no eIF2B mutations.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 268, Issues 1–2, 15 May 2008, Pages 183–186
نویسندگان
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