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
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
  • [41] Early-Onset Spastic Ataxia in a Patient with Prion (PRNP) p.Val180Ile Mutation
    Lee, S. M.
    Yoo, D. Y.
    Ahn, T. B.
    MOVEMENT DISORDERS, 2023, 38 : S326 - S327
  • [42] Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation
    Madrid, RE
    Kubisch, C
    Hays, AP
    NEUROLOGY, 2005, 65 (08) : 1301 - 1303
  • [43] Very early-onset behavioral variant frontotemporal dementia in a patient with a variant of uncertain significance of a FUS gene mutation
    Aguzzoli, Cristiano Schaffer
    Battista, Petronilla
    Hadad, Rafi
    Felloni Borges, Yuri Ferreira
    Schilling, Lucas Porcello
    Miller, Bruce L.
    NEUROCASE, 2022, 28 (04) : 403 - 409
  • [44] Novel RAB39B stop mutation in patient with typical Early-Onset Parkinson's disease
    Jacobson, J.
    Piat, C.
    Ross, O.
    Savica, R.
    MOVEMENT DISORDERS, 2023, 38 : S496 - S497
  • [45] Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease
    Bagaria, Jaya
    Moon, Yeonsil
    Bagyinszky, Eva
    Shim, Kyu Hwan
    An, Seong Soo A.
    Kim, SangYun
    Han, Seol Heui
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [46] A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease
    Lleó, A
    Blesa, R
    Gendre, J
    Castellví, M
    Pastor, P
    Queralt, R
    Oliva, R
    NEUROLOGY, 2001, 57 (10) : 1926 - 1928
  • [47] A NOVEL MUTATION OF THE GAA GENE IN A PATIENT WITH EARLY-ONSET POMPE DISEASE LACKING A DISEASE-SPECIFIC PATHOLOGY
    Kilic, B.
    Kartal, C. Ayse
    GENETIC COUNSELING, 2016, 27 (02): : 255 - 257
  • [48] Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia
    Francesco Nicita
    Giorgio Tasca
    Marta Nardella
    Emanuele Bellacchio
    Ilaria Camponeschi
    Gessica Vasco
    Tommaso Schirinzi
    Enrico Bertini
    Ginevra Zanni
    The Cerebellum, 2018, 17 : 499 - 503
  • [49] Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene
    Rachmiel, Marianna
    Rubio-Cabezas, Oscar
    Ellard, Sian
    Hattersley, Andrew T.
    Perlman, Kusiel
    PEDIATRIC DIABETES, 2012, 13 (06) : e26 - e29
  • [50] A germline MBD4 mutation was identified in a patient with colorectal oligopolyposis and early-onset cancer: A case report
    Tanakaya, Kohji
    Kumamoto, Kensuke
    Tada, Yuhki
    Eguchi, Hidetaka
    Ishibashi, Keiichiro
    Idani, Hitoshi
    Tachikawa, Tetsuhiko
    Akagi, Kiwamu
    Okazaki, Yasushi
    Ishida, Hideyuki
    ONCOLOGY REPORTS, 2019, 42 (03) : 1133 - 1140