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
  • [1] Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNAile homoplasmic mutation in the mitochondrial genome
    Limongelli, A
    Schaefer, J
    Jackson, S
    Invernizzi, F
    Kirino, Y
    Suzuki, T
    Reichmann, H
    Zeviani, M
    JOURNAL OF MEDICAL GENETICS, 2004, 41 (05) : 342 - 349
  • [2] A case study: Analysis of the mitochondrial tRNA-Ile gene for a mutation linked to renal magnesium wasting
    Brooks, Brittany M.
    Sieg, Adam
    Budisaljevic, Milos
    Janech, Michael G.
    ETHNICITY & DISEASE, 2007, 17 (04) : S14 - S15
  • [3] A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia
    Silvestri, G
    Servidei, S
    Rana, M
    Ricci, E
    Spinazzola, A
    Paris, E
    Tonali, P
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1996, 220 (03) : 623 - 627
  • [4] A novel mitochondrial DNA tRNA gene mutation in a family with mitochondrial encephalopathy
    Blakely, E. L.
    Goodall, J. A.
    Anderson, K. N.
    Betts, J. L.
    Dean, A. F.
    Allen, C. M. C.
    Compston, A.
    Turnbull, D. M.
    Taylor, R. W.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 16 - 16
  • [5] Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene
    Denier, Christian
    Balu, Laurent
    Husson, Beatrice
    Nasser, Ghaidaa
    Burglen, Lydie
    Rodriguez, Diana
    Labauge, Pierre
    Chevret, Laurent
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2014, 345 (1-2) : 236 - 238
  • [6] Progressive nephropathy associated with mitochondrial tRNA gene mutation
    Dinour, D
    Mini, S
    Polak-Charcon, S
    Lotan, D
    Holtzman, EJ
    CLINICAL NEPHROLOGY, 2004, 62 (02) : 149 - 154
  • [7] Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy
    Manfredi, G
    Schon, EA
    Bonilla, E
    Moraes, CT
    Shanske, S
    DiMauro, S
    HUMAN MUTATION, 1996, 7 (02) : 158 - 163
  • [8] A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia
    Chinnery, PF
    Johnson, MA
    Taylor, RW
    Durward, WF
    Turnbull, DM
    NEUROLOGY, 1997, 49 (04) : 1166 - 1168
  • [9] CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA IS ASSOCIATED WITH A NOVEL MUTATION IN THE MITOCHONDRIAL TRNA(ASN) GENE
    SEIBEL, P
    LAUBER, J
    KLOPSTOCK, T
    MARSAC, C
    KADENBACH, B
    REICHMANN, H
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1994, 204 (02) : 482 - 489
  • [10] A novel mutation in the mitochondrial tRNA Ser(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency
    Wong, L-J C.
    Yim, D.
    Bai, R-K
    Kwon, H.
    Vacek, M. M.
    Zane, J.
    Hoppel, C. L.
    Kerr, D. S.
    JOURNAL OF MEDICAL GENETICS, 2006, 43 (09)
12345