Exercise intolerance associated with atypical facial muscle hypertrophy related to mitochondrial tRNA (Pro) gene mutation

被引:0
|
作者
Pereon, Y. [1 ]
Magot, A. [1 ]
Fayet, G. [1 ]
Mercier, S. [1 ]
Mussini, J. M. [1 ]
Aure, K. [2 ]
Lombes, A. [2 ]
Jardel, C. [2 ]
机构
[1] Univ Hosp, Nantes, France
[2] Inst Cochin, Paris, France
关键词
D O I
10.1016/j.nmd.2014.06.245
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
G.P.189
引用
收藏
页码:866 / 867
页数:2
相关论文
共 50 条
  • [21] Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene
    Grafakou, O
    Hol, FA
    Schwab, KO
    Siers, MH
    ter Laak, H
    Trijbels, F
    Ensenauer, R
    Boelen, C
    Smeitink, J
    JOURNAL OF INHERITED METABOLIC DISEASE, 2003, 26 (06) : 593 - 600
  • [22] 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
  • [23] Mitochondrial G12334A mutation in the tRNALeu(CUN) gene:: a novel cause of exercise intolerance
    Gamez, J
    Vives-Bauza, C
    Roig, M
    Solano, A
    Briones, P
    Montoya, J
    Cervera, C
    Andreu, AL
    NEUROMUSCULAR DISORDERS, 2001, 11 (6-7) : 656 - 656
  • [24] Point mutation in mitochondrial tRNA gene is associated with polycystic ovary syndrome and insulin resistance
    Ding, Yu
    Zhuo, Guangchao
    Zhang, Caijuan
    Leng, Jianhang
    MOLECULAR MEDICINE REPORTS, 2016, 13 (04) : 3169 - 3172
  • [25] 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
  • [26] 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
  • [27] Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation
    Blakely, Emma L.
    Swalwell, Helen
    Petty, Richard K. H.
    McFarland, Robert
    Turnbull, Douglass M.
    Taylor, Robert W.
    JOURNAL OF NEUROLOGY, 2007, 254 (09) : 1283 - 1285
  • [28] Atypical MELAS associated with mitochondrial tRNALYs gene A8296G mutation
    Sakuta, R
    Honzawa, S
    Murakami, N
    Goto, Y
    Nagai, T
    PEDIATRIC NEUROLOGY, 2002, 27 (05) : 397 - 400
  • [29] Muscle histopathology in diabetes mellitus associated with mitochondrial tRNA(Leu(UUR)) mutation at position 3243
    Suzuki, Y
    Goto, Y
    Taniyama, M
    Nonaka, I
    Murakami, N
    Hosokawa, K
    Asahina, T
    Atsumi, Y
    Matsuoka, K
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 1997, 145 (01) : 49 - 53
  • [30] 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)