POLG Mutation in a Patient with Cataracts, Early-Onset Distal Muscle Weakness and Atrophy and Ovarian Dysgenesis

被引：0
|
作者：
Bekheirnia, Mir Reza [1 ]
Zhang, Wei [1 ]
Eble, Tanya [1 ]
Willis, Alecia [1 ]
Shaibani, Aziz [1 ]
Wong, Lee-jun [1 ]
Scaglia, Fernando [1 ]
Dhar, Shweta [1 ]
机构：
[1] Baylor Coll Med, Houston, TX 77030 USA
来源：
NEUROLOGY | 2012年 / 78卷
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：
P07207
引用
收藏
页数：2
相关论文
共 50 条
  • [21] BRCA1 mutation analysis in a Portuguese population with early-onset breast and/or ovarian cancer
    Soares, R
    van Eijk, R
    Dias, A
    Botelho, M
    Costa, C
    Amendoeira, I
    Lopes, C
    Devilee, P
    Schmitt, F
    DISEASE MARKERS, 1999, 15 (1-3) : 93 - 93
  • [22] An early-onset SLE patient with a novel paternal inherited BACH2 mutation
    Zhou, Lina
    Sun, Gan
    Chen, Ran
    Chen, Junjie
    Fang, Shuyu
    Xu, Qiling
    Tang, Wenjing
    Dai, Rongxin
    Zhang, Zhiyong
    An, Yunfei
    Tang, Xuemei
    Zhao, Xiaodong
    JOURNAL OF CLINICAL IMMUNOLOGY, 2023, 43 (06) : 1367 - 1378
  • [23] Detection of the SQSTM1 Mutation in a Patient with Early-Onset Hippocampal Amnestic Syndrome
    Carandini, Tiziana
    Sacchi, Luca
    Ghezzi, Laura
    Pietroboni, Anna M.
    Fenoglio, Chiara
    Arighi, Andrea
    Fumagalli, Giorgio G.
    De Riz, Milena A.
    Serpente, Maria
    Rotondo, Emanuela
    Scarpini, Elio
    Galimberti, Daniela
    JOURNAL OF ALZHEIMERS DISEASE, 2021, 79 (02) : 477 - 481
  • [24] A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism
    Yueting Chen
    Peng Liu
    Fei Xie
    Bo Wang
    Zhiru Lin
    Wei Luo
    Neurological Sciences, 2022, 43 : 1405 - 1409
  • [25] An early-onset SLE patient with a novel paternal inherited BACH2 mutation
    Lina Zhou
    Gan Sun
    Ran Chen
    Junjie Chen
    Shuyu Fang
    Qiling Xu
    Wenjing Tang
    Rongxin Dai
    Zhiyong Zhang
    Yunfei An
    Xuemei Tang
    Xiaodong Zhao
    Journal of Clinical Immunology, 2023, 43 : 1367 - 1378
  • [26] EARLY-ONSET OSTEOPOROSIS IN A PATIENT DUE TO NOVEL MUTATION OF THE WNT1 GENE
    Karaseva, E.
    Eremkina, A.
    Salimkhanov, R.
    Myakota, A.
    Sevostyanenko, E.
    Mokrysheva, N.
    AGING CLINICAL AND EXPERIMENTAL RESEARCH, 2024, 36 : S237 - S237
  • [27] A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism
    Chen, Yueting
    Liu, Peng
    Xie, Fei
    Wang, Bo
    Lin, Zhiru
    Luo, Wei
    NEUROLOGICAL SCIENCES, 2022, 43 (02) : 1405 - 1409
  • [28] Gene Mutation Analysis in a Korean Patient with Early-Onset and Recalcitrant Generalized Pustular Psoriasis
    Song, Hyo Sang
    Yun, Su Jin
    Park, Sun
    Lee, Eun-So
    ANNALS OF DERMATOLOGY, 2014, 26 (03) : 424 - 425
  • [29] Diaphragm muscle weakness in mice is early-onset post-myocardial infarction and associated with elevated protein oxidation
    Bowen, T. Scott
    Mangner, Norman
    Werner, Sarah
    Glaser, Stefanie
    Kullnick, Yvonne
    Schrepper, Andrea
    Doenst, Torsten
    Oberbach, Andreas
    Linke, Axel
    Steil, Leif
    Schuler, Gerhard
    Adams, Volker
    JOURNAL OF APPLIED PHYSIOLOGY, 2015, 118 (01) : 11 - 19
  • [30] Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy
    Siekierska, Aleksandra
    Isrie, Mala
    Liu, Yue
    Scheldeman, Chloe
    Vanthillo, Niels
    Lagae, Lieven
    de Witte, Peter A. M.
    Van Esch, Hilde
    Goldfarb, Mitchell
    Buyse, Gunnar M.
    NEUROLOGY, 2016, 86 (23) : 2162 - 2170
12345