M.3243A>G: Many faces of one single point mutation

被引：0
|
作者：
Martin Windpessl
Manfred Wallner
Stephan R. Lederer
Thomas Klopstock
Helmut Schiffl
机构：
[1] Klinikum Wels-Grieskirchen,Interne Abteilung
[2] KfH Nierenzentrum,undefined
来源：
Wiener klinische Wochenschrift | 2010年 / 122卷
关键词：
Peritoneal Dialysis; Renal Replacement Therapy; Mitochondrial Disorder; Single Point Mutation; Renal Manifestation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：601 / 602
页数：1
相关论文
共 50 条
  • [1] m.3243A>G: Many faces of one single point mutation
    Lederer, Stephan R.
    Klopstock, Thomas
    Schiffl, Helmut
    WIENER KLINISCHE WOCHENSCHRIFT, 2010, 122 (19-20) : 601 - 602
  • [2] Three families with 'de novo' m.3243A > G mutation
    de laat, Paul
    Janssen, Mirian C. H.
    Alston, Charlotte L.
    Taylor, Robert W.
    Rodenburg, Richard J. T.
    Smeitink, Jan A. M.
    BBA CLINICAL, 2016, 6 : 19 - 24
  • [3] Fear of disease progression in carriers of the m.3243A > G mutation
    José A. E. Custers
    Paul de Laat
    Saskia Koene
    Jan Smeitink
    Mirian C. H. Janssen
    Christianne Verhaak
    Orphanet Journal of Rare Diseases, 13
  • [4] Heteroplasmy of the m.3243A>G Mutation May Influence Phenotypic Heterogeneity
    Finsterer, Josef
    Zarrouk-Mahjoub, Sinda
    INTERNAL MEDICINE, 2017, 56 (22) : 3123 - 3123
  • [5] The heart in m.3243A>G carriers; [Das Herz von m.3243A>G-Trägern]
    Finsterer J.
    Zarrouk-Mahjoub S.
    Herz, 2020, 45 (4) : 356 - 361
  • [6] One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation
    Karien Esterhuizen
    J. Zander Lindeque
    Shayne Mason
    Francois H. van der Westhuizen
    Richard J. Rodenburg
    Paul de Laat
    Jan A. M. Smeitink
    Mirian C. H. Janssen
    Roan Louw
    Metabolomics, 2021, 17
  • [7] Classical MERRF phenotype associated with mitochondrial tRNALeu (m.3243A>G) mutation
    Florian Brackmann
    Angela Abicht
    Uwe Ahting
    Rolf Schröder
    Regina Trollmann
    European Journal of Pediatrics, 2012, 171 : 859 - 862
  • [8] One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation
    Esterhuizen, Karien
    Lindeque, J. Zander
    Mason, Shayne
    van der Westhuizen, Francois H.
    Rodenburg, Richard J.
    de Laat, Paul
    Smeitink, Jan A. M.
    Janssen, Mirian C. H.
    Louw, Roan
    METABOLOMICS, 2021, 17 (01)
  • [9] Authors' Reply to 'Heteroplasmy of the m.3243A>G Mutation May Influence Phenotypic Heterogeneity'
    Tashiro, Ryosuke
    Onoue, Noriko
    Rikimaru, Hiroya
    Tsukita, Kenichi
    Suzuki, Yasushi
    Shinozaki, Tsuyoshi
    INTERNAL MEDICINE, 2017, 56 (22) : 3125 - 3125
  • [10] The MELAS mutation m.3243A > G alters the expression of mitochondrial tRNA fragments
    Meseguer, Salvador
    Navarro-Gonzalez, Carmen
    Panadero, Joaquin
    Villarroya, Magda
    Boutoual, Rachid
    Antonio Sanchez-Alcazar, Jose
    Armengod, M-Eugenia
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, 2019, 1866 (09): : 1433 - 1449
12345