Mitochondrial disease caused by the m.3243A>G mutation

被引:0
|
作者
Varhaug, Kristin N. [1 ]
Hikmat, Omar [2 ]
Bindoff, Laurence A. [1 ]
机构
[1] Univ Bergen, Klin Inst 1, Haukeland Univ Sjukehus, Nevrol Avdeling, Bergen, Norway
[2] Univ Bergen, Klin Inst 1, Haukeland Univ Sjukehus, Barne & Ungdomsklinikken, Bergen, Norway
关键词
DYSFUNCTION; NUCLEAR;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:871 / 874
页数:4
相关论文
共 50 条
  • [21] The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243A>G Mutation
    Motlagh Scholle, Leila
    Schieffers, Helena
    Al-Robaiy, Samiya
    Thaele, Annemarie
    Dehghani, Faramarz
    Lehmann Urban, Diana
    Zierz, Stephan
    BIOMOLECULES, 2020, 10 (08) : 1 - 14
  • [22] Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese families
    Ma, Yinan
    Fang, Fang
    Cao, Yanyan
    Yang, Yanling
    Zou, Liping
    Zhang, Ying
    Wang, Songtao
    Zhu, Sainan
    Xu, Yufeng
    Pei, Pei
    Qi, Yu
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2010, 291 (1-2) : 17 - 21
  • [23] Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation
    Bargagli, M.
    Primiano, G.
    Primiano, A.
    Gervasoni, J.
    Naticchia, A.
    Servidei, S.
    Gambaro, G.
    Ferraro, P. M.
    UROLITHIASIS, 2019, 47 (05) : 489 - 492
  • [24] Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors
    Pickett, Sarah J.
    Grady, John P.
    Ng, Yi Shiau
    Gorman, Grainne S.
    Schaefer, Andrew M.
    Wilson, Ian J.
    Cordell, Heather J.
    Turnbull, Doug M.
    Taylor, Robert W.
    McFarland, Robert
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2018, 5 (03): : 333 - 345
  • [25] Independent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome
    Florez, Ingrid
    Pirrone, Irune
    Casique, Liliana
    Luisa Dominguez, Carmen
    Mahfoud, Antonieta
    Rodriguez, Tania
    Rodriguez, Daniel
    De Lucca, Marisel
    Luis Ramirez, Jose
    CLINICAL BIOCHEMISTRY, 2022, 109 : 98 - 101
  • [26] High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation
    Malfatti, Edoardo
    Laforet, Pascal
    Jardel, Claude
    Stojkovic, Tanya
    Behin, Anthony
    Eymard, Bruno
    Lombes, Anne
    Benmalek, Amria
    Becane, Henri-Marc
    Berber, Nawal
    Meune, Christophe
    Duboc, Denis
    Wahbi, Karim
    NEUROLOGY, 2013, 80 (01) : 100 - 105
  • [27] The heart in m.3243A>G carriers
    Finsterer, J.
    Zarrouk-Mahjoub, S.
    HERZ, 2020, 45 (04) : 356 - 361
  • [28] High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation
    Duboc, D.
    Wahbi, K.
    Laforet, P.
    Varenne, O.
    Weber, S.
    Stojkovic, T.
    Behin, A.
    Eymard, B.
    EUROPEAN JOURNAL OF HEART FAILURE, 2013, 12 : S182 - S182
  • [29] Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation
    Tschampa, Henriette J.
    Urbach, Horst
    Greschus, Susanne
    Kunz, Wolfram S.
    Kornblum, Cornelia
    JOURNAL OF NEUROLOGY, 2013, 260 (04) : 1071 - 1080
  • [30] Mitochondrial DNA m.3243A>G mutation rarely causes CADASIL-like phenotype
    Liao, Nai-Yi
    Liao, Kwong-Kum
    Liao, Yi-Chu
    Lee, Yi-Chung
    NEUROBIOLOGY OF AGING, 2021, 97 : 145.e5 - 145.e6