کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8281282 1535146 2012 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome
چکیده انگلیسی
We describe a Persian Jewish family with two siblings affected with typical CMS, harboring the common heterozygous (− 38A-G) E-box mutation associated with a previously unreported heterozygous p.224 insT causing an insertion of Threonine in the TPR6 domain. To the best of our knowledge, this is the first mutation in the TPR6 domain and might give supportive evidence to the role of this domain in rapsyn self association and consequently co-clustering with AchR in the post synaptic membrane.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 316, Issues 1–2, 15 May 2012, Pages 112-115
نویسندگان
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