کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8646217 | 1570073 | 2018 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A novel SGCE gene mutation in a Moroccan sporadic case with myoclonus-dystonia syndrome
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: A novel SGCE gene mutation in a Moroccan sporadic case with myoclonus-dystonia syndrome A novel SGCE gene mutation in a Moroccan sporadic case with myoclonus-dystonia syndrome](/preview/png/8646217.png)
چکیده انگلیسی
Inherited myoclonus-dystonia syndrome (MDS) is a rare autosomal-dominant movement disorder characterized by myoclonic jerks and dystonia accompanied with psychiatric manifestations that begin in the first two decades of life. Mutations in epsilon-sarcoglycan (SGCE) gene which encodes the SGCE protein represent a major genetic cause of MDS. We report a sporadic MDS case with abnormal movements including myoclonus and dystonic symptoms affecting the upper body then the neck. In addition, obsessive compulsive disorder (OCD) was observed. This heterogeneous phenotype was shown to be associated with a novel heterozygous mutation within the exon 6 of SGCE gene (c.812G>T).
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene Reports - Volume 11, June 2018, Pages 121-123
Journal: Gene Reports - Volume 11, June 2018, Pages 121-123
نویسندگان
Laila Rachad, Hicham El Otmani, Adnane Karkar, Nadia El Kadmiri, Sellama Nadifi,