Late-onset thymidine kinase 2 deficiency: a review of 18 cases

[Background] TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum...

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Detalhes bibliográficos
Autores: Domínguez‐González, Cristina, Hernández-Laín, Aurelio, Riva, Eloy, Hernández-Voth, Ana, Sayas Catalán, Javier, Fernández-Torrón, Roberto, Fuiza-Luces, Carmen, García-García, Jorge, Moris, Germán, Olivé, Montse, Miralles, Frances, Díaz-Manera, Jordi, Caballero-Eraso, Candela, Méndez-Ferrer, Bosco, Martí, Ramón, García Arumi, Elena, Badosa, María Carmen, Esteban, Jesús, Jiménez-Mallebrera, Cecilia, Blázquez Encinar, Alberto, Arenas, Joaquín, Hirano, Michio, Martín, Miguel Ángel, Paradas, Carmen
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2019
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/204934
Acesso em linha:http://hdl.handle.net/10261/204934
Access Level:acceso abierto
Palavra-chave:TK2 deficiency
Mitochondrial myopathy
Multiple deletions
Descrição
Resumo:[Background] TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity.

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