A novel mitochondrial tRNAIle point mutation in chronic progressive external ophthalmoplegia

被引：0
|
作者：
L. Franceschina
S. Salani
A. Bordoni
M. Sciacco
L. Napoli
G. P. Comi
A. Prelle
F. Fortunato
G. M. Hadjigeorgiou
E. Farina
N. Bresolin
M. G. D’Angelo
G. Scarlato
机构：
[1] Centro Dino Ferrari,
[2] Istituto di Clinica Neurologica,undefined
[3] Universita’ degli Studi di Milano,undefined
[4] I.R.C.C.S. Ospedale Maggiore Policlinico,undefined
[5] Via F. Sforza 35,undefined
[6] I-20122 Milano,undefined
[7] Italy e-mail: muslab@imiucca.csi.unimi.it Tel.: +39-2-55033817 Fax: +39-2-55190392,undefined
[8] Department of Neurology,undefined
[9] Red Cross Hospital,undefined
[10] Athens,undefined
[11] Greece,undefined
[12] Neurorehabilitation Unit,undefined
[13] I.R.C.C.S. “Santa Maria Nascente” Center,undefined
[14] Don Gnocchi Foundation,undefined
[15] University of Milan,undefined
[16] Milano,undefined
[17] Italy,undefined
来源：
Journal of Neurology | 1998年 / 245卷
关键词：
Point Mutation; Ophthalmoplegia; Progressive External Ophthalmoplegia; Chronic Progressive External Ophthalmoplegia;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：755 / 758
页数：3
相关论文
共 50 条
  • [41] Focal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation
    Narumi, Kaori
    Mishima, Eikan
    Akiyama, Yukako
    Matsuhashi, Tetsuro
    Nakamichi, Takashi
    Kisu, Kiyomi
    Nishiyama, Shuhei
    Ikenouchi, Hajime
    Kikuchi, Akio
    Izumi, Rumiko
    Miyazaki, Mariko
    Abe, Takaaki
    Sato, Hiroshi
    Ito, Sadayoshi
    NEPHRON, 2018, 138 (03) : 243 - 248
  • [42] No association between mitochondrial tRNAVal T1658C mutation and chronic progressive external ophthalmoplegia (CPEO)
    Zhou, Lijun
    Wang, Hongwei
    Wei, Jing
    Wang, Yi
    Wang, Yanyu
    MITOCHONDRIAL DNA, 2014, 25 (05): : 385 - 386
  • [43] Update on Chronic Progressive External Ophthalmoplegia
    Bau, Viktoria
    Zierz, Stephan
    STRABISMUS, 2005, 13 (03) : 133 - 142
  • [44] Chronic progressive external ophthalmoplegia.
    Lee A.G.
    Brazis P.W.
    Current Neurology and Neuroscience Reports, 2002, 2 (5) : 413 - 417
  • [45] Strabismus in chronic progressive external ophthalmoplegia
    Kim, Ji Yeon
    Yang, Hee Kyung
    Kim, Namju
    Kim, Man Jin
    Cho, Sung Im
    Seong, Moon-Woo
    Park, Sung Sup
    Hwang, Jeong-Min
    ACTA OPHTHALMOLOGICA, 2021, 99 (02) : E274 - E280
  • [46] A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease
    Filosto, Massimiliano
    Lanzi, Gaetana
    Nesti, Claudia
    Vielmi, Valentina
    Marchina, Eleonora
    Galvagni, Anna
    Giliani, Silvia
    Santorelli, Filippo M.
    Padovani, Alessandro
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2016, 6 : 70 - 73
  • [47] Mitochondrial chronic progressive external ophthalmoplegia - variability of the genotype-phenotype-relationship
    Wendt, M.
    Bau, V.
    Deschauer, M.
    Zierz, S.
    NERVENHEILKUNDE, 2009, 28 (05) : 289 - 292
  • [48] Diagnostic value of mitochondrial DNA analysis in chronic progressive external ophthalmoplegia (CPEO)
    Kornblum, C
    Kunz, WS
    Klockgether, T
    Roggenkämper, P
    Schröder, R
    KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 2004, 221 (12) : 1057 - 1061
  • [49] Cystoid Macular Edema in a Patient with Chronic Progressive External Ophthalmoplegia with Mitochondrial Myopathy
    Brubaker, Jacob W.
    Mohney, Brian G.
    Pulido, Jose S.
    OPHTHALMIC GENETICS, 2009, 30 (01) : 50 - 53
  • [50] DIFFERENTLY DELETED MITOCHONDRIAL GENOMES IN MATERNALLY INHERITED CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
    TANAKA, M
    YONEDA, M
    OHNO, K
    SATO, W
    YAMAMOTO, M
    NONAKA, I
    HORAI, S
    OZAWA, T
    JOURNAL OF INHERITED METABOLIC DISEASE, 1989, 12 (03) : 359 - 362
12345