Transmission of the mitochondrial t8993c mutation in a new family

被引：5
|
作者：
Hurvitz, H
Naveh, Y
Shoseyov, D
Klar, A
Shaag, A
Elpeleg, O [1 ]
机构：
[1] Shaare Zedek Med Ctr, Metab Dis Unit, IL-91031 Jerusalem, Israel
[2] Bikur Holim Hosp, Dept Pediat, Jerusalem, Israel
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 111卷 / 04期
关键词：
D O I：
10.1002/ajmg.10613
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：446 / 447
页数：2
相关论文
共 50 条
  • [21] Adult Leigh syndrome with mitochondrial DNA mutation at 8993
    T. Nagashima
    Masamitsu Mori
    Katsuyuki Katayama
    Mitsuru Nunomura
    Hiroshi Nishihara
    Hiroaki Hiraga
    Shinya Tanaka
    Yu-ichi Goto
    Kazuo Nagashima
    Acta Neuropathologica, 1999, 97 : 416 - 422
  • [22] Adult-Onset Myoclonus Ataxia Associated With the Mitochondrial m.8993T>C "NARP" Mutation
    Martikainen, Mika H.
    Gorman, Grainne S.
    Goldsmith, Paul
    Burn, David J.
    Turnbull, Doug M.
    Schaefer, Andrew M.
    MOVEMENT DISORDERS, 2015, 30 (10) : 1432 - 1433
  • [23] Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T > C mutation in the MT-ATP6 gene
    Kara, Bulent
    Arikan, Muzaffer
    Maras, Hulya
    Abaci, Neslihan
    Cakiris, Aris
    Ustek, Duran
    MOLECULAR GENETICS AND METABOLISM, 2012, 107 (03) : 389 - 393
  • [24] The T-C-(8356) mitochondrial DNA mutation in a Japanese family
    Sano, M
    Ozawa, M
    Shiota, S
    Momose, Y
    Uchigata, M
    Goto, Y
    JOURNAL OF NEUROLOGY, 1996, 243 (06) : 441 - 444
  • [25] Adult Leigh syndrome with mitochondrial DNA mutation at 8993
    Nagashima, T
    Mori, M
    Katayama, K
    Nunomura, M
    Nishihara, H
    Hiraga, H
    Tanaka, S
    Goto, Y
    Nagashima, K
    ACTA NEUROPATHOLOGICA, 1999, 97 (04) : 416 - 422
  • [26] Maternally Inherited Leigh Syndrome: T8993G Mutation in a Tunisian Family
    Mkaouar-Rebai, Emna
    Chaari, Wissem
    Younes, Samia
    Bousoffara, Raoudha
    Sfar, Mohamed Tahar
    Fakhfakh, Faiza
    PEDIATRIC NEUROLOGY, 2009, 40 (06) : 437 - 442
  • [27] Retinal dystrophy in a Japanese boy harboring the mitochondrial DNA T8993G mutation
    Yamada, T
    Hayasaka, S
    Hongo, K
    Kubota, H
    JAPANESE JOURNAL OF OPHTHALMOLOGY, 2002, 46 (04) : 460 - 462
  • [28] Hearing evaluation in two sisters with a T8993G point mutation of mitochondrial DNA
    Sakai, Y
    Kaga, K
    Kodama, K
    Higuchi, A
    Miyamoto, J
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2004, 68 (08) : 1115 - 1119
  • [29] Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generationA morphological, genetic and spectroscopic study
    Monica Sciacco
    Alessandro Prelle
    Elisabetta D’Adda
    Costanza Lamperti
    Andreina Bordoni
    Mario Rango
    Marco Crimi
    Giacomo P. Comi
    Nereo Bresolin
    Maurizio Moggio
    Journal of Neurology, 2003, 250 : 1498 - 1500
  • [30] Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation - A morphological, genetic and spectroscopic study
    Sciacco, M
    Prelle, A
    D'Adda, E
    Lamperti, C
    Bordoni, A
    Rango, M
    Crimi, M
    Comi, GP
    Bresolin, N
    Moggio, M
    JOURNAL OF NEUROLOGY, 2003, 250 (12) : 1498 - 1500
12345