Association between heteroplasmy of A3243G mutation and SNP in ND1 gene in 109 MELAS patients.

被引:0
|
作者
Akanuma, J
Kinoshita, T
Komaki, H
Nonaka, I
Goto, Y
机构
[1] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Kodaira, Tokyo 187, Japan
[2] Natl Ctr Neurol & Psychiat, Natl Ctr Hosp Mental Nervous & Muscle Disorders, Kodaira, Tokyo 187, Japan
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2329
引用
收藏
页码:578 / 578
页数:1
相关论文
共 50 条
  • [21] The role of complex I genes in MELAS:: A novel heteroplasmic mutation 3380G>A in ND1 of mtDNA
    Horvath, Rita
    Reilmann, Ralf
    Holinski-Feder, Elke
    Ringelstein, E. Bernd
    Klopstock, Thomas
    NEUROMUSCULAR DISORDERS, 2008, 18 (07) : 553 - 556
  • [22] Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene
    Campos, Y
    Martin, MA
    Rubio, JC
    delOlmo, MCG
    Cabello, A
    Arenas, J
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1997, 238 (02) : 323 - 325
  • [23] No association of the mitochondrial DNA polymorphism with increased risk of stroke in patients with the A3243G mutation (vol 75, pg 1204, 2004)
    Deschauer, M
    Chinnery, PF
    Shanske, S
    DiMauro, S
    Majamaa, K
    Wilichowski, E
    Thorburn, DR
    Zierz, S
    Schaefer, AM
    Turnbull, DM
    Taylor, RW
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2004, 75 (10): : 1512 - 1512
  • [24] First description of Leber's hereditary optic neuropathy in association with the 3243A>G "MELAS" mutation in the mitochondrial DNA MTTL1 gene
    Catarino, C.
    Thiels, C.
    Koehler, C.
    Luecke, T.
    Klopstock, T.
    EUROPEAN JOURNAL OF NEUROLOGY, 2015, 22 : 30 - 30
  • [25] Mitochondrial encephalomyopathy lactic acidosisand stroke-like episodes (melas) with the A3243G mutation of the tRNA Leu(uur) gene of mtDNA in native American haplogroup B2
    Delgado-Sanchez, R.
    Zarate-Moysen, A.
    Monsalvo-Reyes, A.
    Herrero, M. D.
    Ruiz-Pesini, E.
    Lopez-Perez, M.
    Montoya, J.
    Montiel-Sosa, J. F.
    REVISTA DE NEUROLOGIA, 2007, 44 (01) : 18 - 22
  • [26] Cardiac Involvement Is a Major Cause of Morbidity and Mortality in Patients Harbouring the MT-TL1 3243A>G "MELAS" Mutation
    Malfatti, Edoardo
    Stojkovic, Tanya
    Behin, Anthony
    Eymard, Bruno
    Jardel, Claude
    Meune, Christophe
    Lombes, Anne
    Duboc, Denis
    Whabi, Karim
    Laforet, Pascal
    NEUROLOGY, 2012, 78
  • [27] Cardiac Involvement Is a Major Cause of Morbidity and Mortality in Patients Harbouring the MT-TL1 3243A>G "MELAS" Mutation
    Malfatti, Edoardo
    Stojkovic, Tanya
    Behin, Anthony
    Eymard, Bruno
    Jardel, Claude
    Meune, Christophe
    Lombes, Anne
    Duboc, Denis
    Whabi, Karim
    Laforet, Pascal
    NEUROLOGY, 2012, 78
  • [28] Identification of a novel mitochondrial DNA mutation in the ND1 gene in 2 patients with hypertrophic cardiomyopathy with restrictive physiology
    Khogali, S
    Blair, E
    Watkins, H
    Beattie, J
    Poulton, J
    EUROPEAN HEART JOURNAL, 2001, 22 : 635 - +
  • [29] Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria
    Karicheva, Olga Z.
    Kolesnikova, Olga A.
    Schirtz, Tom
    Vysokikh, Mikhail Y.
    Mager-Heckel, Anne-Marie
    Lombes, Anne
    Boucheham, Abdeldjalil
    Krasheninnikov, Igor A.
    Martin, Robert P.
    Entelis, Nina
    Tarassov, Ivan
    NUCLEIC ACIDS RESEARCH, 2011, 39 (18) : 8173 - 8186
  • [30] Correlation of serum biomarkers and magnetic resonance spectroscopy (MRS) in monitoring disease progression in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) due to mtDNA A3243G mutation
    Lee, H.
    Lee, Y.
    NEUROMUSCULAR DISORDERS, 2017, 27 : S118 - S118