Replay to: Phenotypic spectrum of POLG1 mutations

被引:0
|
作者
Cardaioli, Elena [1 ]
Da Pozzo, Paola [1 ]
Federico, Antonio [1 ]
机构
[1] Univ Siena, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy
关键词
D O I
10.1007/s10072-017-3229-6
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:575 / 575
页数:1
相关论文
共 50 条
  • [31] mtDNA deletions and not point mutations account for mitochondrial myopathy in PEO with POLG1 mutations
    Kollberg, G
    Jansson, M
    Pérez-Bercoff, A
    Lindberg, C
    Holme, E
    Moslemi, AR
    Oldfors, A
    NEUROMUSCULAR DISORDERS, 2004, 14 (8-9) : 569 - 569
  • [32] Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy
    Galassi, Giuliana
    Lamantea, Eleonora
    Invernizzi, Federica
    Tavani, Federica
    Pisano, Isabella
    Ferrero, Ileana
    Palmieri, Luigi
    Zeviani, Massimo
    NEUROMUSCULAR DISORDERS, 2008, 18 (06) : 465 - 470
  • [33] POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection
    Engelsen, Bernt A.
    Tzoulis, Charalampos
    Karlsen, Bjorn
    Lillebo, Atle
    Laegreid, Liv M.
    Aasly, Jan
    Zeviani, Massimo
    Bindoff, Laurence A.
    BRAIN, 2008, 131 : 818 - 828
  • [34] Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy
    C. Cagnoli
    A. Brussino
    E. Di Gregorio
    P. Caroppo
    S. Stola
    E. Dragone
    M. Ferrone
    S. Padovan
    N. Migone
    L. Orsi
    A. Brusco
    Journal of Neurology, 2008, 255 : 1079 - 1080
  • [35] MtDNA deletions and not point mutations cause mitochondrial myopathy in PEO with POLG1 mutations
    Kollberg, G
    Jansson, M
    Pérez-Bercoff, Å
    Lindberg, C
    Holme, E
    Moslemi, AR
    Oldfors, A
    BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2004, 1657 : 63 - 63
  • [36] Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain
    Del Bo, R
    Bordoni, A
    Sciacco, M
    Di Fonzo, A
    Galbiati, S
    Crimi, M
    Bresolin, N
    Comi, GP
    NEUROLOGY, 2003, 61 (07) : 903 - 908
  • [37] Decreased ATP production in skin fibroblasts of children with POLG1 mutations
    de Vries, Maaike C.
    Valsecchi, Federica
    Rodenburg, Richard J.
    van den Heuvel, Lambert P. W.
    Willems, Peter H.
    Smeitink, Jan A. M.
    MITOCHONDRION, 2010, 10 (02) : 238 - 238
  • [38] Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations
    Gittan Kollberg
    Monica Jansson
    Åsa Pérez-Bercoff
    Atle Melberg
    Christopher Lindberg
    Elisabeth Holme
    Ali-Reza Moslemi
    Anders Oldfors
    European Journal of Human Genetics, 2005, 13 : 463 - 469
  • [39] Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations
    Kollberg, G
    Jansson, M
    Pérez-Bercoff, Å
    Melberg, A
    Lindberg, C
    Holme, E
    Moslemi, AR
    Oldfors, A
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2005, 13 (04) : 463 - 469
  • [40] Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity
    Finsterer, Josef
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2020, 7 (05): : 575 - 576