Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene

被引：4

作者：

Ichikawa, Kazushi ^{[1
]}

Tsuyusaki, Yu ^{[1
]}

Shimbo, Hiroko ^{[2
]}

Goto, Tomohide ^{[1
]}

机构：

[1] Kanagawa Childrens Med Ctr, Clin Res Inst, Div Neurol, Yokohama, Kanagawa, Japan

[2] Kanagawa Childrens Med Ctr, Clin Res Inst, Neurol, Yokohama, Kanagawa, Japan

来源：

PEDIATRICS INTERNATIONAL | 2019年 / 61卷 / 10期

关键词：

ATPase; 6; Leigh syndrome; mitochondrial DNA; ophthalmoplegia; ptosis; T9176C MUTATION;

D O I：

10.1111/ped.13991

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：1055 / 1056

页数：2

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Late-onset Leigh syndrome with m.9176T&gt;C mutation in the mitochondrial ATPase 6 gene

Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene