A familial progressive necrotizing encephalopathy due to a novel homoplasmic mutation in the mitochondrial tRNA-Ile gene

被引：0
|
作者：
Zeviani, M
Limongelli, A
Schaefer, J
Jackson, S
Invernizzi, F
Suzuki, T
Reichmann, H
机构：
来源：
NEUROLOGY | 2004年 / 62卷 / 07期
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：A31 / A32
页数：2
相关论文
共 50 条
  • [21] A novel homoplasmic mitochondrial gene mutation originated from single ancestor, genetic risk factor for cardiomyopathies
    Shin, WS
    Suzuki, JI
    Tanaka, M
    Hemmi, C
    Toyo-Oka, T
    CIRCULATION, 2000, 102 (18) : 762 - 762
  • [22] Familial Ohtahara Syndrome Due to a Novel ARX Gene Mutation
    Giordano, L.
    Sartori, S.
    Russo, S.
    Accorsi, P.
    Galli, J.
    Tiberti, A.
    Bettella, E.
    Marchi, M.
    Vignoli, A.
    Darra, F.
    Murgia, A.
    Dalla Bernardina, B.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (12) : 3133 - 3137
  • [23] Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation
    Kato, Maki
    Yagami, Akiko
    Tsukamoto, Tetsuya
    Shinkai, Yasuko
    Kato, Takema
    Kurahashi, Hiroki
    JOURNAL OF DERMATOLOGY, 2020, 47 (06): : 669 - 672
  • [24] Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child
    Panda, Isha
    Ahmad, Istaq
    Sagar, Shakti
    Zahra, Sana
    Shamim, Uzma
    Sharma, Suvasini
    Faruq, Mohammed
    CLINICAL GENETICS, 2020, 97 (06) : 933 - 937
  • [25] Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNALeu(CUN) gene
    Coku, Jorida
    Shanske, Sara
    Mehrazin, Mahsa
    Tanji, Kurenai
    Naini, Ali
    Emmanuele, Valentina
    Patterson, Marc
    Hirano, Michio
    DiMauro, Salvatore
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2010, 290 (1-2) : 166 - 168
  • [26] Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu(UUR)) gene (A3243T)
    Shaag, A
    Saada, A
    Steinberg, A
    Navon, P
    Elpeleg, ON
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1997, 233 (03) : 637 - 639
  • [27] A mitochondrial DNA mutation (A3288G) in the tRNA Leu(UUR) gene associated with familial myopathy
    Kim, SH
    Hadjigeorgiou, GM
    Fischbeck, KH
    Andrew, AL
    Berry, GT
    Bingham, P
    Shanske, S
    Bonilla, E
    DiMauro, S
    NEUROLOGY, 1999, 52 (06) : A157 - A157
  • [28] Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death
    Santorelli, FM
    Schlessel, JS
    Slonim, AE
    DiMauro, S
    PEDIATRIC NEUROLOGY, 1996, 15 (02) : 145 - 149
  • [29] A novel mitochondrial tRNA gene mutation in a chinese family with dilated cardiomyopathy and sensorineural deafness
    Xianghong Wu
    Journal of Nanjing Medical University, 2006, (05) : 279 - 282
  • [30] A novel homozygous missense mutation in TUFM leads to a mitochondrial cardiomyopathy syndrome without progressive encephalopathy
    Hershkovitz, T.
    Kurolap, A.
    Paperna, T.
    Mory, A.
    Gonzaga-Jauregui, C.
    Wolf, S. E.
    Overton, J. D.
    Shuldiner, A. R.
    Mandel, H.
    Feldman, H. Baris
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1344 - 1345
12345