کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3055145 1580069 2007 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A case of Walker–Warburg syndrome resulting from a homozygous POMT1 mutation
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
A case of Walker–Warburg syndrome resulting from a homozygous POMT1 mutation
چکیده انگلیسی

Walker––Warburg syndrome (WWS), the most severe α-dystroglycanopathy, is characterized by brain and eye anomalies, and congenital muscular dystrophy (CMD). So far at least four genes (POMT1, POMT2, Fukutin, and FKRP gene) have been implicated in WWS, accounting for about 30% of all cases. We report a male patient with WWS resulting from a homozygous nonsense mutation (R514X) in the POMT1 gene. The patient had congenital hydrocephalus which was detected at 29 weeks of gestation. A brain MRI obtained after birth revealed type II lissencephaly, hydrocephalus, and pontocerebellar hypoplasia. The case also exhibited severe ocular malformations and muscular hypotonia due to CMD.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Paediatric Neurology - Volume 11, Issue 1, January 2007, Pages 46–49
نویسندگان
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