کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
9187487 1184493 2005 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes
چکیده انگلیسی
Coffin-Lowry syndrome is an X-linked mental retardation disorder with dysmorphism caused by mutation of the ribosomal S6 kinase (RSK2) gene. Coffin-Lowry syndrome patients can experience unusual drop episodes whereby an abrupt loss of muscle tone and falling down can be induced by sudden, unexpected tactile or auditory stimuli. We detected a C913T (R305X) mutation in a female Coffin-Lowry syndrome patient with drop episodes. All mutations in our patient and those previously reported in patients with drop episodes result in premature truncation of the RSK2 protein in the N-terminal kinase domain or upstream of this domain.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 27, Issue 2, March 2005, Pages 114-117
نویسندگان
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