Cytochrome c oxidase deficiency in two patients due to mutations in COX10

被引：0
作者：
Hansikova, Hana
Stufkova, Hana
Rychtarova, Lucie
Vanisova, Marie
Krizova, Jana
Zeman, Jiri
Honzik, Tomas
Tesarova, Marketa
机构：
[1] Charles Univ Prague, Dept Paediat & Inherited Metab Disorders, Fac Med 1, Prague, Czech Republic
[2] Gen Univ Hosp, Prague, Czech Republic
来源：
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS | 2024年 / 1865卷
关键词：
D O I：
10.1016/j.bbabio.2024.149385
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
T15 P-21
引用
收藏
页码：105 / 105
页数：1
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[31]   Mutation screening in patients with isolated cytochrome c oxidase deficiency [J].
Sacconi, S ;
Salviati, L ;
Sue, CM ;
Shanske, S ;
Davidson, MM ;
Bonilla, E ;
Naini, AB ;
De Vivo, DC ;
DiMauro, S .
PEDIATRIC RESEARCH, 2003, 53 (02) :224-230
[32]   Mutation screening in patients with isolated cytochrome C oxidase deficiency [J].
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Sacconi, S ;
Sue, CM ;
Shanske, S ;
Davidson, MM ;
Bonilla, E ;
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DeVivo, DC ;
DiMauro, S .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 :S71-S71
[33]   CYTOCHROME-C-OXIDASE DEFICIENCY [J].
DIMAURO, S ;
LOMBES, A ;
NAKASE, H ;
MITA, S ;
FABRIZI, GM ;
TRITSCHLER, HJ ;
BONILLA, E ;
MIRANDA, AF ;
DEVIVO, DC ;
SCHON, EA .
PEDIATRIC RESEARCH, 1990, 28 (05) :536-541
[34]   CYTOCHROME C OXIDASE DEFICIENCY IN CHILDHOOD [J].
Zeman, J. ;
Hansikova, H. ;
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Vesela, K. .
ACTA PAEDIATRICA, 2010, 99 :80-80
[35]   CYTOCHROME-C OXIDASE DEFICIENCY [J].
DIMAURO, S ;
ZEVIANI, M ;
BONILLA, E ;
BRESOLIN, N ;
NAKAGAWA, M ;
MIRANDA, AF ;
MOGGIO, M .
BIOCHEMICAL SOCIETY TRANSACTIONS, 1985, 13 (04) :651-653
[36]   Mitochondrial cytochrome c oxidase deficiency [J].
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Rustin, Pierre .
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[37]   COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood [J].
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Meunier, Brigitte ;
Sadowski, Michael ;
Cirak, Sebahattin ;
Hargreaves, Iain ;
Land, John M. ;
Nanji, Tina ;
Polke, James M. ;
Woodward, Cathy E. ;
Sweeney, Mary G. ;
Solanki, Shyam ;
Foley, Reghan ;
Hurles, Matthew E. ;
Stalker, Jim ;
Blake, Julian ;
Holton, Janice L. ;
Phadke, Rahul ;
Muntoni, Francesco ;
Reilly, Mary M. ;
Hanna, Michael G. .
JAMA NEUROLOGY, 2013, 70 (12) :1556-1561
[38]   Bi-allelic mutations in COX6A2 cause a striated muscle-specific cytochrome c oxidase deficiency [J].
Inoue, M. ;
Uchino, S. ;
Iida, A. ;
Noguchi, S. ;
Hayashi, S. ;
Takahashi, T. ;
Fujii, K. ;
Komaki, H. ;
Takeshita, E. ;
Nonaka, I. ;
Yoshizawa, T. ;
Van Lommel, L. ;
Schuit, F. ;
Goto, Y. ;
Mimaki, M. ;
Nishino, I. .
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[39]   FATAL INFANTILE MITOCHONDRIAL MYOPATHY DUE TO CYTOCHROME-C OXIDASE DEFICIENCY [J].
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DORMER, RL ;
HUGHES, IA ;
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CROSS, AR ;
HENDRY, GAF ;
JONES, OTG ;
JOHNSON, MA ;
SHERRATT, HSA ;
TURNBULL, DM .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1983, 60 (03) :453-463
[40]   A case of respiratory muscle weakness due to cytochrome c oxidase enzyme deficiency [J].
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EUROPEAN RESPIRATORY JOURNAL, 1998, 12 (03) :742-744
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