کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3080242 | 1189332 | 2008 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Phenotype and clinical course in a family with a new de novo Twinkle gene mutation
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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: Phenotype and clinical course in a family with a new de novo Twinkle gene mutation Phenotype and clinical course in a family with a new de novo Twinkle gene mutation](/preview/png/3080242.png)
چکیده انگلیسی
The Twinkle gene product is important for mtDNA replication. Only a few reports have investigated the clinically effect of mutations in this gene. We describe a new de novo mutation (1110CÂ >Â A) in the PEO1 gene in a mother and her two sons. The mother had progressive ophthalmoplegia, limb weakness, sensory neuropathy, elevated resting plasma lactate, glucose intolerance and impaired VO2max while her sons only had mild ptosis. In accordance with the clinical presentation, abnormal morphological findings in muscle and multiple deletions and depletion of mtDNA in muscle were more pronounced in the proband than in her sons.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 18, Issue 4, April 2008, Pages 306-309
Journal: Neuromuscular Disorders - Volume 18, Issue 4, April 2008, Pages 306-309
نویسندگان
Tina D. Jeppesen, Marianne Schwartz, Eskild Colding-Jørgensen, Thomas Krag, Simon Hauerslev, John Vissing,