Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression

The nuclear gene TK2 encodes the mitochondrial thymidine kinase, an enzyme involved in the phosphorylation of deoxycytidine and deoxythymidine nucleosides. Biallelic TK2 mutations are associated with a spectrum of clinical presentations mainly affecting skeletal muscle and featuring muscle mitochond...

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Detalles Bibliográficos
Autores principales: Manini, Arianna, Meneri, Megi, Rodolico, Carmelo, Corti, Stefania, Toscano, Antonio, Comi, Giacomo Pietro, Musumeci, Olimpia, Ronchi, Dario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8914305/
https://www.ncbi.nlm.nih.gov/pubmed/35280287
http://dx.doi.org/10.3389/fneur.2022.857279

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8914305/
https://www.ncbi.nlm.nih.gov/pubmed/35280287
http://dx.doi.org/10.3389/fneur.2022.857279

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