A Novel TK2 Gene Mutation Causes Mitochondrial DNA Depletion Syndrome with Fetal Early-Onset Lipid S

来源 :The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie | 被引量 : 0次 | 上传用户：wjs9988

【摘要】

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【作者】

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Duoling Li Honghao Li Bing Wen Jingli Shan Kunqian Ji Wei Li Yuying Zhao Tingjun Dai Chuanzhu Yan

【机构】

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Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hosipital, Shandong Universi

【出处】

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The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie

【发表日期】

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2013年7期

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Background Mitochondrial thymidine kinase 2(TK2) is one of human deoxynucleoside kinases catalyzing the primary phosphorylation of thymidine and deoxycytidine to the corresponding nucleoside monophosphates.Methods In this study, we report an infant with the myopathic form of mitochondrial DNA (mDNA)depletion syndrome (MDS).We used direct sequencing of TK2 gene and realtime quantitative PCRto detect gene mutations and mitochondrial DNA(mtDNA) copy numbers, both in muscle and fibroblast.

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A Novel TK2 Gene Mutation Causes Mitochondrial DNA Depletion Syndrome with Fetal Early-Onset Lipid S

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