Bi-allelic mutations in COX6A2 cause a striated muscle-specific cytochrome c oxidase deficiency

被引:0
|
作者
Inoue, M. [1 ]
Uchino, S. [1 ]
Iida, A. [1 ]
Noguchi, S. [1 ]
Hayashi, S. [1 ]
Takahashi, T. [2 ]
Fujii, K. [3 ]
Komaki, H. [1 ]
Takeshita, E. [1 ]
Nonaka, I. [1 ]
Yoshizawa, T. [4 ]
Van Lommel, L. [5 ]
Schuit, F. [5 ]
Goto, Y. [1 ]
Mimaki, M. [1 ]
Nishino, I.
机构
[1] NCNP, Tokyo, Japan
[2] Saiseikai Utsunomiya Hosp, Utsunomiya, Tochigi, Japan
[3] Chiba Univ, Chiba, Japan
[4] Ritsumeikan Univ, Kusatsu, Shiga, Japan
[5] Katholieke Univ Leuven, Leuven, Belgium
关键词
D O I
10.1016/j.nmd.2019.06.020
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
O.1
引用
收藏
页码:S38 / S38
页数:1
相关论文
共 50 条
  • [1] COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency
    Inoue, Michio
    Uchino, Shumpei
    Iida, Aritoshi
    Noguchi, Satoru
    Hayashi, Shinichiro
    Takahashi, Tsutomu
    Fujii, Katsunori
    Komaki, Hirofumi
    Takeshita, Eri
    Nonaka, Ikuya
    Okada, Yukinori
    Yoshizawa, Takuya
    Van Lommel, Leentje
    Schuit, Frans
    Goto, Yu-ichi
    Mimaki, Masakazu
    Nishino, Ichizo
    [J]. ANNALS OF NEUROLOGY, 2019, 86 (02) : 193 - 202
  • [2] INVESTIGATION OF MUSCLE-SPECIFIC CYTOCHROME-C-OXIDASE (COX) SUBUNIT MESSENGER-RNAS IN COX-DEFICIENT MYOPATHIES
    ARNAUDO, E
    HIRANO, M
    DIMAURO, S
    SCHON, EA
    [J]. ANNALS OF NEUROLOGY, 1994, 36 (02) : 319 - 319
  • [3] Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy
    Baertling, Fabian
    van den Brand, Mariel A. M.
    Hertecant, Jozef L.
    Al-Shamsi, Aisha
    van den Heuvel, Lambert P.
    Distelmaier, Felix
    Mayatepek, Ertan
    Smeitink, Jan A.
    Nijtmans, Leo G. J.
    Rodenburg, Richard J. T.
    [J]. HUMAN MUTATION, 2015, 36 (01) : 34 - 38
  • [4] Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus
    Ruggeri, Gaia
    Timms, Andrew E.
    Cheng, Chi
    Weiss, Avery
    Kollros, Peter
    Chapman, Teresa
    Tully, Hannah
    Mirzaa, Ghayda M.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (03) : 676 - 681
  • [5] Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency
    Alston, Charlotte L.
    Veling, Mike T.
    Heidler, Juliana
    Taylor, Lucie S.
    Alaimo, Joseph T.
    Sung, Andrew Y.
    He, Langping
    Hopton, Sila
    Broomfield, Alexander
    Pavaine, Julija
    Diaz, Jullianne
    Leon, Eyby
    Wolf, Philipp
    McFarland, Robert
    Prokisch, Holger
    Wortmann, Saskia B.
    Bonnen, Penelope E.
    Wittig, Ilka
    Pagliarini, David J.
    Taylor, Robert W.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2020, 106 (01) : 92 - 101
  • [6] Structure of the human gene (COX6A2) for the heart/muscle isoform of cytochrome c oxidase subunit via and its chromosomal location in humans, mice, and cattle
    Bachman, NJ
    Riggs, PK
    Siddiqui, N
    Makris, GJ
    Womack, JE
    Lomax, MI
    [J]. GENOMICS, 1997, 42 (01) : 146 - 151
  • [7] Cytochrome c oxidase deficiency in two patients due to mutations in COX10
    Hansikova, Hana
    Stufkova, Hana
    Rychtarova, Lucie
    Vanisova, Marie
    Krizova, Jana
    Zeman, Jiri
    Honzik, Tomas
    Tesarova, Marketa
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2024, 1865 : 105 - 105
  • [8] BENIGN REVERSIBLE MUSCLE CYTOCHROME-C-OXIDASE (COX) DEFICIENCY - A 2ND CASE
    ZEVIANI, M
    PETERSON, P
    SERVIDEI, S
    BONILLA, E
    DIMAURO, S
    [J]. NEUROLOGY, 1986, 36 (04) : 151 - 151
  • [9] Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
    Danhauser, Katharina
    Alhaddad, Bader
    Makowski, Christine
    Piekutowska-Abramczuk, Dorota
    Syrbe, Steffen
    Gomez-Ospina, Natalia
    Manning, Melanie A.
    Kostera-Pruszczyk, Anna
    Krahn-Peper, Claudia
    Berutti, Riccardo
    Kovacs-Nagy, Reka
    Gusic, Mirjana
    Graf, Elisabeth
    Laugwitz, Lucia
    Roeblitz, Michaela
    Wroblewski, Andreas
    Hartmann, Hans
    Das, Anibh M.
    Bueltmann, Eva
    Fang, Fang
    Xu, Manting
    Schatz, Ulrich A.
    Karall, Daniela
    Zellner, Herta
    Haberlandt, Edda
    Feichtinger, Rene G.
    Mayr, Johannes A.
    Meitinger, Thomas
    Prokisch, Holger
    Strom, Tim M.
    Ploski, Rafal
    Hoffmann, Georg F.
    Pronicki, Maciej
    Bonnen, Penelope E.
    Morlot, Susanne
    Haack, Tobias B.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (05) : 817 - 825
  • [10] Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders
    Szot, Justin O.
    Campagnolo, Carla
    Cao, Ye
    Iyer, Kavitha R.
    Cuny, Hartmut
    Drysdale, Thomas
    Flores-Daboub, Josue A.
    Bi, Weimin
    Westerfield, Lauren
    Liu, Pengfei
    Leung, Tse Ngong
    Choy, Kwong Wai
    Chapman, Gavin
    Xiao, Rui
    Siu, Victoria M.
    Dunwoodie, Sally L.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2020, 106 (01) : 129 - 136