کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1914018 | 1535143 | 2012 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
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چکیده انگلیسی
We report a novel heteroplasmic mutation p.Y440C in the mitochondrial DNA-encoded subunit I of the cytochrome c oxidase (COX) gene in a patient with late onset progressive painless weakness. Her muscle biopsy showed scattered COX-negative fibers and several small collections of inflammatory cells. The mutation was detected in the patient's muscle but not in her blood. The low mutant load in muscle could explain the patient's late onset of the myopathy and milder phenotype when compared to the previously published cases with MTCO1 mutations.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 319, Issues 1–2, 15 August 2012, Pages 158–163
Journal: Journal of the Neurological Sciences - Volume 319, Issues 1–2, 15 August 2012, Pages 158–163
نویسندگان
Rami Massie, Jing Wang, Li-Chieh Chen, Victor W. Zhang, Michael P. Collins, Lee-Jun C. Wong, Margherita Milone,