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
来源：
NEUROMUSCULAR DISORDERS | 2014年 / 24卷 / 9-10期
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
  • [31] 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
  • [32] Exercise intolerance associated with a novel 8300T>C mutation in mitochondrial transfer RNAlys
    Gambello, Michael J.
    Bai, Ren-Kui
    Chen, Tian-Jian
    Dimachkie, Mazen
    Wong, Lee-Jun C.
    MUSCLE & NERVE, 2006, 34 (04) : 437 - 443
  • [33] MITOCHONDRIAL PROTEIN HYPERACETYLATION IN SKELETAL MUSCLE IS ASSOCIATED WITH EXERCISE INTOLERANCE IN MURINE MODEL OF POSTINFARCT HEART FAILURE
    Tsuda, M.
    Fukushima, A.
    Matsumoto, J.
    Shingo, T.
    Furihata, T.
    Nakajima, T.
    Katayama, T.
    Kakutani, N.
    Yokota, T.
    Kinugawa, S.
    CARDIOLOGY, 2017, 137 : 46 - 46
  • [34] Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomeruloselerosis
    Scaglia, F
    Vogel, H
    Hawkins, EP
    Vladutiu, GD
    Liu, LL
    Wong, LJC
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 123A (02) : 172 - 178
  • [35] Progressive muscle weakness associated with a novel mutation in the mitochondrial tRNASer(AGY) gene
    Cardaioli, E.
    Da Pozzo, P.
    Malfatti, E.
    Gallus, G. N.
    Carluccio, M. A.
    Rufa, A.
    Volpi, N.
    Dotti, M. T.
    Federico, A.
    EUROPEAN JOURNAL OF NEUROLOGY, 2009, 16 : 281 - 281
  • [36] HYPERTROPHIC CARDIOMYOPATHY IN PATIENTS WITH DIABETES-MELLITUS ASSOCIATED WITH MITOCHONDRIAL TRNA(LEU(UUR)) GENE MUTATION
    YOSHIDA, R
    ISHIDA, Y
    ABO, K
    HOZUMI, T
    UENO, H
    SHIOTANI, H
    KISHIMOTOHASHIRAMOTO, M
    HASHIRAMOTO, M
    MATSUNAGA, K
    KASUGA, M
    KAZUMI, T
    INTERNAL MEDICINE, 1995, 34 (10) : 953 - 958
  • [37] Islet cell antibodies irm diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation
    Oexle, K
    Oberle, J
    Finckh, B
    Kohlschutter, A
    Nagy, M
    Seibel, P
    Seissler, J
    Hubner, C
    EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 1996, 104 (03) : 212 - 217
  • [38] 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
  • [39] Exercise intolerance in a large multigeneration family associated with a homoplasmic mitochondrial DNA mutation in MT-TL1
    Darin, N.
    Hedberg-Oldfors, C.
    Kroksmark, A.
    Moslemi, A.
    Kollberg, G.
    Oldfors, A.
    NEUROMUSCULAR DISORDERS, 2017, 27 : S119 - S119
  • [40] Orthostatic intolerance is not necessarily related to a specific mutation (Ala457Pro) in the human norepinephrine transporter gene
    Ivancsits, S
    Heider, A
    Rüdiger, HW
    Winker, R
    AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 2003, 325 (02): : 63 - 65
12345