کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1935725 1050673 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Clinical and genetic characterization of Chanarin–Dorfman syndrome
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Clinical and genetic characterization of Chanarin–Dorfman syndrome
چکیده انگلیسی

We describe the clinical features, muscle pathology features, and molecular studies of seven patients with Chanarin–Dorfman syndrome (CDS) or neutral lipid storage disease and ichthyosis (NLSDI), a multisystem triglyceride storage disease with massive accumulation of lipid droplets in muscle fibers.All patients presented with congenital ichthyosiform erythroderma, cytoplasmic lipid droplets in blood cells, mild to severe hepatomegaly, and increased serum CK levels and liver enzymes. Three patients showed muscle symptoms and three had steathorrea. Molecular analysis identified five mutations, three of which are novel.These findings expand the clinical and mutational spectrum and underline the genetic heterogeneity of this disease.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochemical and Biophysical Research Communications - Volume 369, Issue 4, 16 May 2008, Pages 1125–1128
نویسندگان
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