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
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
收藏
页码:1055 / 1056
页数:2
相关论文
共 50 条
  • [21] Response to Immunotherapy in a Patient with Adult Onset Leigh Syndrome and T9176C mtDNA Mutation
    Arista, Miguel Chuquilin
    Govindarajan, Raghav
    Font-Montgomery, Esperanza
    NEUROLOGY, 2016, 86
  • [22] Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation
    Chuquilin, Miguel
    Govindarajan, Raghav
    Peck, Dawn
    Font-Montgomery, Esperanza
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2016, 8 : 28 - 32
  • [23] A novel mutation in the mitochondrial ND3 gene causing Leigh syndrome with late-onset neurological decline
    Tchikviladze, M.
    Laforet, P.
    Eymard, B.
    Delbos, F.
    Filaut, S.
    Lombes, A.
    Jardel, C.
    NEUROMUSCULAR DISORDERS, 2007, 17 (9-10) : 769 - 769
  • [24] Adult-onset Leigh syndrome / lactic acidosis and stroke-like episodes overlap syndrome due to m9176T >C mutation with cortical involvement
    Lee, M.
    Lee, J.
    Lee, H.
    NEUROMUSCULAR DISORDERS, 2021, 31 : S115 - S116
  • [25] Leigh's syndrome in siblings carrying the focal bilateral striatal necrosis 9176T>C mutation
    Gray, G
    Hutchin, T
    Chakrapani, A
    Wright, J
    BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2004, 1657 : 36 - 37
  • [26] Severe Infantile Leigh Syndrome Associated With a Rare Mitochondrial ND6 Mutation, m.14487T>C
    Tarnopoisky, Mark
    Meaney, Brandon
    Robinson, Brian
    Sheidon, Katherine
    Boles, Richard G.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161 (08) : 2020 - 2023
  • [27] A new mtDNA-tRNAGlu mutation (14728T > C) presenting a late-onset mitochondrial encephalomyopathy
    Nogueira, Celia
    Nunes, Joao
    Evangelista, Teresinha
    Fattori, Fabiana
    Tessa, Alessandra
    Pereira, Cristina
    Santorelli, Filippo M.
    Vilarinho, Laura
    MITOCHONDRION, 2007, 7 (06) : 396 - 398
  • [28] Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA
    Castagna, Avril E.
    Addis, Jane
    McInnes, Roderick R.
    Clarke, Joe T. R.
    Ashby, Peter
    Blaser, Susan
    Robinson, Brian H.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (08) : 808 - 816
  • [29] Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation
    Han, Jee-Young
    Sung, Jung-Joon
    Park, Hong-Kyun
    Yoon, Byung-Nam
    Lee, Kwang-Woo
    JOURNAL OF CLINICAL NEUROSCIENCE, 2014, 21 (11) : 2009 - 2011
  • [30] Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene
    Childs, A. -M.
    Hutchin, T.
    Pysden, K.
    Highet, L.
    Bamford, J.
    Livingston, J.
    Crow, Y. -J.
    NEUROPEDIATRICS, 2007, 38 (06) : 313 - 316