کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3081670 | 1189385 | 2008 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
The m.5650GÂ >Â A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: The m.5650GÂ >Â A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy The m.5650GÂ >Â A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy](/preview/png/3081670.png)
چکیده انگلیسی
We report a family where a predominantly proximal myopathy has become increasingly severe with successive generations of the maternal lineage. This pure myopathy has been caused by a mutation (m.5650GÂ >Â A) in the mt-tRNAAla gene that has been reported only once previously in a patient with CADASIL where the phenotype was dominated by neurological complications. This report is therefore the first description of the phenotype associated solely with this mutation and confirms its pathogenicity.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 18, Issue 1, January 2008, Pages 63-67
Journal: Neuromuscular Disorders - Volume 18, Issue 1, January 2008, Pages 63-67
نویسندگان
Robert McFarland, Helen Swalwell, Emma L. Blakely, Langping He, Emma J. Groen, Douglass M. Turnbull, Kate M. Bushby, Robert W. Taylor,