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中文Mitochondrial Complex Iv Deficiency, Nuclear Type 5 (MC4DN5)
Alias:
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Mitochondrial Complex V Deficiency Nuclear Type 4
Leigh Syndrome, Saguenay-Lac-Saint-Jean Type
Leigh Syndrome, French-Canadian Type
Leigh Syndrome, French Canadian Type
Cytochrome Oxidase Deficiency, Saguenay-Lac-Saint-Jean Type
Cytochrome C Oxidase Deficiency, French Canadian Type
Cytochrome C Oxidase Deficiency, French-Canadian Type
Cox Deficiency, Saguenay-Lac-Saint-Jean Type
Leigh Syndrome , French Canadian Type
Cox Deficiency, French Canadian Type
Cox Deficiency, French-Canadian Type
French Canadian Leigh Disease
Slsj-Cox Deficiency
Mc4dn5
Lsfc
French Canadian Type Cytochrome C Oxidase Deficiency
Mitochondrial Complex Iv Deficiency Nuclear Type 5
Saguenay Lac Saint Jean Type Cox Deficiency
Saguenay Lac Saint Jean Type Leigh Syndrome
French Canadian Type Cox Deficiency
French Canadian Type Leigh Syndrome
Mc5dn4
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线粒体复合体IV缺陷，核型5，也称为先天性乳酸酸中毒，萨古内-拉克-圣让型，与线粒体复合体V缺陷，核型5和线粒体疾病有关，症状包括共济失调、震颤和呼吸暂停。与线粒体复合体IV缺陷，核型5有关的重要基因是LRPPRC（富含亮氨酸的五肽重复序列包含），其相关通路/超级通路包括代谢和呼吸电子传递、化学耦合产生的ATP合成和热能通过解耦联蛋白产生。相关组织包括眼睛和肝脏，相关表型为生长发育迟缓和肌张力低下。
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