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

共 50 条

[41] Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum
Monlleo-Neila, Laura
del Toro, Mireia
Bornstein, Belen
Garcia-Arumi, Elena
Sarrias, Axel
Roig-Quilis, Manuel
Munell, Francina
JOURNAL OF CHILD NEUROLOGY, 2013, 28 (11) : 1531 - 1534
[42] Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review
Liao, Yashi
Lai, Yaxin
Chen, Xinxin
Zhao, Shanshan
BMC NEUROLOGY, 2025, 25 (01)
[43] Dichloroacetate therapy in Leigh syndrome with a mitochondrial T8993C mutation
Fujii, T
Ito, M
Miyajima, T
Okuno, T
PEDIATRIC NEUROLOGY, 2002, 27 (01) : 58 - 61
[44] Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C
Saneto, Russell P.
Singh, Keshav K.
MITOCHONDRION, 2010, 10 (05) : 567 - 572
[45] A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene (vol 10, 347, 2019)
Li, Tao-Ran
Wang, Qun
Liu, Mao-Mao
Lv, Rui-Juan
FRONTIERS IN NEUROLOGY, 2019, 10
[46] Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA
Deschauer, M
Bamberg, C
Claus, D
Zierz, S
Turnbull, DM
Taylor, RW
NEUROLOGY, 2003, 60 (08) : 1357 - 1359
[47] Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine
Cox, Rachel
Platt, Julia
Chen, Li Chieh
Tang, Sha
Wong, Lee-Jun
Enns, Gregory M.
MITOCHONDRION, 2012, 12 (02) : 258 - 261
[48] Vaccination triggering onset of m.8993T > G associated Leigh syndrome
Finsterer, Josef
Zarrouk-Mahjoub, Sinda
MOLECULAR GENETICS AND METABOLISM REPORTS, 2018, 15 : 127 - 128
[49] The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome
Nesbitt, Victoria
Morrison, Patrick J.
Crushell, Ellen
Donnelly, Deirdre E.
Alston, Charlotte L.
He, Langping
Mcfarland, Robert
Taylor, Robert W.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2012, 54 (06): : 500 - 506
[50] A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
Li, Tao-Ran
Wang, Qun
Liu, Mao-Mao
Lv, Rui-Juan
FRONTIERS IN NEUROLOGY, 2019, 10

← 1 2 3 4 5 →

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