MPV17-Associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations

被引:0
|
作者
El-Hattab, Ayman W. [1 ]
Li, Fang-Yuan [1 ]
Schmitt, Eric [1 ]
Zhang, Shulin [1 ]
Craigen, William [1 ]
Wong, Lee-Jun [1 ]
机构
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
关键词
D O I
10.1016/j.mito.2009.12.073
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
78
引用
收藏
页码:222 / 222
页数:1
相关论文
共 50 条
  • [1] MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations
    El-Hattab, Ayman W.
    Li, Fang-Yuan
    Schmitt, Eric
    Zhang, Shulin
    Craigen, William J.
    Wong, Lee-Jun C.
    MOLECULAR GENETICS AND METABOLISM, 2010, 99 (03) : 300 - 308
  • [2] MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome
    Kim, Joonil
    Kang, Eungu
    Kim, Yoonmyung
    Kim, Jae-Min
    Lee, Beom Hee
    Murayama, Kei
    Kim, Gu-Hwan
    Choi, In Hee
    Kim, Kyung Mo
    Yoo, Han-Wook
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2016, 8 : 74 - 76
  • [3] MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome
    Hong, Ki Teak
    Lim, Byung Chan
    Moon, Jin Soo
    Ko, Jae Sung
    KOREAN JOURNAL OF GASTROENTEROLOGY, 2021, 77 (05): : 248 - 252
  • [4] Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
    AlSaman, Abdulaziz
    Tomoum, Hoda
    Invernizzi, Federica
    Zeviani, Massimo
    SAUDI JOURNAL OF GASTROENTEROLOGY, 2012, 18 (04): : 285 - 289
  • [5] Mitochondrial DNA depletion syndrome due to mutations in the MPV17 gene
    Evans, Julie
    Uusimaa, J.
    Smith, C.
    Butterworth, A.
    Craig, K.
    Ashley, N.
    Liao, C.
    Kelly, D.
    Samyn, M.
    Rahman, S.
    Stewart, H.
    Morris, A. M. M.
    Seller, A.
    Fratter, C.
    Taylor, R. W.
    Poulton, J.
    JOURNAL OF MEDICAL GENETICS, 2011, 48 : S70 - S70
  • [6] New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
    Mancuso, M
    Ferraris, S
    Pancrudo, J
    Feigenbaum, A
    Raiman, J
    Christodoulou, J
    Thorburn, DR
    DiMauro, S
    ARCHIVES OF NEUROLOGY, 2005, 62 (05) : 745 - 747
  • [7] MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report
    Pyal, Anjan
    Paramasivam, Arumugam
    Meena, Angamuthu Kannan
    Bhavana, Velpula Bhagya
    Thangaraj, Kumarasamy
    MITOCHONDRION, 2017, 37 : 41 - 45
  • [8] Novel mutation in DGUOK in Hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria
    Tadiboyina, VT
    Rupar, A
    Atkison, P
    Feigenbaum, A
    Kronick, J
    Wang, J
    Hegele, RA
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 135A (03) : 289 - 291
  • [9] Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome
    Sezer, Taner
    Ozcay, Figen
    Balci, Oya
    Alehan, Fusun
    JOURNAL OF CHILD NEUROLOGY, 2015, 30 (01) : 124 - 128
  • [10] Hepatocerebral form of mitochondrial DNA depletion syndrome
    Spinazzola, Antonella
    Santer, Rene
    Akman, Orhan H.
    Tsiakas, Kostas
    Schaefer, Hansjoerg
    Ding, Xiaoqi
    Karadimas, Charalampos L.
    Shanske, Sara
    Ganesh, Jaya
    Di Mauro, Salvatore
    Zeviani, Massimo
    ARCHIVES OF NEUROLOGY, 2008, 65 (08) : 1108 - 1113