A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia

被引:2
|
作者
Lee, Su Jeong [1 ]
Kanwal, Sumaira [2 ]
Yoo, Da Hye [1 ]
Park, Hye Ri [1 ]
Choi, Byung-Ok [3 ]
Chung, Ki Wha [1 ]
机构
[1] Kongju Natl Univ, Dept Biol Sci, 56 Gongjudaehak Ro, Gongju 32588, South Korea
[2] COMSATS Univ Islamabad, Dept Biosci, Sahiwal, Pakistan
[3] Sungkyunkwan Univ, Dept Neurol, Samsung Med Ctr, Sch Med, 81 Irwon Ro, Seoul 06351, South Korea
来源
JOURNAL OF CLINICAL NEUROLOGY | 2019年 / 15卷 / 03期
基金
新加坡国家研究基金会;
关键词
D O I
10.3988/jcn.2019.15.3.418
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:418 / 420
页数:3
相关论文
共 50 条
  • [1] Multisystem presentation of a homozygous POLG2 variant
    Finsterer, Josef
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (05)
  • [2] A Japanese family with autosomal dominant progressive external ophthalmoplegia caused by POLG mutation
    Adachi, Y
    Kurihara, S
    Wada, K
    Fukuhara, Y
    Nakano, T
    Nakashima, K
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 : S47 - S47
  • [3] A novel POLG2 variant leads to disrupted mitochondrial integrity in a family with cerebellar ataxia and progressive ophthalmoplegia
    Lohmann, K.
    Borsche, M.
    Baumann, H.
    Tunc, S.
    Knappe, E.
    Oezcakir, S.
    Trinh, J.
    Dulovic-Mahlow, M.
    Brueggemann, N.
    MOVEMENT DISORDERS, 2020, 35 : S91 - S91
  • [4] Patient homozygous for a recessive POLG mutation presents with features of MERRF
    Van Goethem, G
    Mercelis, R
    Löfgren, A
    Seneca, S
    Ceuterick, C
    Martin, JJ
    Van Broeckhoven, C
    NEUROLOGY, 2003, 61 (12) : 1811 - 1813
  • [5] A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family
    Qu, Ronggui
    Sang, Qing
    Wang, Xueqian
    Xu, Yao
    Chen, Biaobang
    Mu, Jian
    Zhang, Zhihua
    Jin, Li
    He, Lin
    Wang, Lei
    ANNALS OF HUMAN GENETICS, 2020, 84 (01) : 46 - 53
  • [6] Deep sequencing of mitochondrial DNA and functional characterization of a novel POLG mutation in a patient with autosomal recessive progressive external ophthalmoplegia
    Hedberg-Oldfors, C.
    Macao, B.
    Basu, S.
    Uhler, J.
    Erdinc, D.
    Peter, B.
    Lindberg, C.
    Larsson, E.
    Falkenberg, M.
    Oldfors, A.
    NEUROMUSCULAR DISORDERS, 2019, 29 : S70 - S71
  • [7] Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant"
    Dosekova, Petra
    Dubiel, Andrzej
    Karlowicz, Anna
    Zietkiewicz, Szymon
    Rydzanicz, Malgorzata
    Habalova, Viera
    Pienkowski, Victor Murcia
    Skirkova, Miriam
    Han, Vladimir
    Mosejova, Alexandra
    Gdovinova, Zuzana
    Kaliszewska, Magdalena
    Tonska, Katarzyna
    Szymanski, Michal R.
    Skorvanek, Matej
    Ploski, Rafal
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (05)
  • [8] Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation
    Urban, Diana Lehmann
    Scholle, Leila Motlagh
    Alt, Kerstin
    Ludolph, Albert C.
    Rosenbohm, Angela
    DIAGNOSTICS, 2020, 10 (02)
  • [9] Camptocormia as a novel phenotype in a heterozygous POLG2 mutation
    Urban, D. Lehmann
    Scholle, L. Motlagh
    Alt, K.
    Ludolph, A.
    Rosenbohm, A.
    EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 951 - 951
  • [10] Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome
    Hoff, Kirsten E.
    DeBalsi, Karen L.
    Sanchez-Quintero, Maria J.
    Longley, Matthew J.
    Hirano, Michio
    Naini, Ali B.
    Copeland, William C.
    PLOS ONE, 2018, 13 (08):