Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature

被引：11

作者：

Levy, Rebecca J. ^{[1
]}

Rios, Purificacion Gutierrez ^{[1
]}

Akman, Hasan O. ^{[1
]}

Sciacco, Monica ^{[2
]}

De Vivo, Darryl C. ^{[1
]}

DiMauro, Salvatore ^{[1
]}

机构：

[1] Columbia Univ, Dept Neurol, Med Ctr, New York, NY USA

[2] Univ Milan, Neuromuscular Unit, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, I-20122 Milan, Italy

来源：

JOURNAL OF CHILD NEUROLOGY | 2014年 / 29卷 / 10期

基金：

美国国家卫生研究院;

关键词：

ND3; Leigh syndrome; m; 10191T > C; mitochondria; complex I deficiency; COMPLEX-I DEFICIENCY; MITOCHONDRIAL-DNA MUTATIONS; ND3; GENE; CLINICAL-FEATURES; MISSENSE MUTATION; MTDNA MUTATIONS; COMMON-CAUSE; DISEASE; ENCEPHALOPATHY; CHILDREN;

D O I：

10.1177/0883073813506783

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report an unusual case of Leigh syndrome due to the m.10191T>C mutation in the complex I gene MT-ND3. This mutation has been associated with a spectrum of clinical phenotypes ranging from infant lethality to adult onset. Despite infantile onset and severe symptoms, our patient has survived to early adulthood because of a strict dietary regimen and parental care. This patient is an extreme example of the frequently prolonged course of Leigh syndrome due to this particular mutation.

引用

页码：NP105 / NP110

页数：6

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Long Survival in Patients With Leigh Syndrome and the m.10191T&gt;C Mutation in MT-ND3: A Case Report and Review of the Literature

Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature