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  5. Mitochondrial respiratory chain complex Ⅰ and Ⅲ deficiency in a chinese MELAS girl bahoring 3243A>

Mitochondrial respiratory chain complex Ⅰ and Ⅲ deficiency in a chinese MELAS girl bahoring 3243A>

来源 :第十四次全国医学遗传学学术会议 | 被引量 : 0次 | 上传用户：xdz429
【摘 要】
：
Aims: The 3243A>G mutation of mtDNA usually is associated with MELAS syndrome.In 3243A>G patients, respiratory chain complex Ⅰ deficiency is most frequently found, and partial decreased amounts of com
【作 者】
：
Moling Wu Li Liu Jing Cheng Zhikun Lu Yanna Cai Xi Yin Yonglan Huang Huiying Sheng 
【机 构】
：
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center,Guangzhou,G
【出 处】
：
第十四次全国医学遗传学学术会议
【发表日期】
：
2015年9期
【关键词】
：
MELAS syndrome mitochondrial respiratory chain complex deficiency mitochondrial 
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　　Aims: The 3243A>G mutation of mtDNA usually is associated with MELAS syndrome.In 3243A>G patients, respiratory chain complex Ⅰ deficiency is most frequently found, and partial decreased amounts of complexes Ⅲ and Ⅳ.We report a case of a patient with combined defects of complexs Ⅰ and Ⅲ, and analyze the influence of enzyme activity dysfunction due to 3243 A>G mutation.
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