A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome

In this study, we report on a novel heteroplasmic pathogenic variant in mitochondrial DNA (mtDNA). The studied patient had myoclonus, epilepsy, muscle weakness, and hearing impairment and harbored a heteroplasmic m.8315A>C variant in the MTTK gene with a mutation load ranging from 71% to >96%...

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Detalles Bibliográficos
Autores principales: Štufková, Hana, Kolářová, Hana, Lokvencová, Kateřina, Honzík, Tomáš, Zeman, Jiří, Hansíková, Hana, Tesařová, Markéta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319148/
https://www.ncbi.nlm.nih.gov/pubmed/35886028
http://dx.doi.org/10.3390/genes13071245

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319148/
https://www.ncbi.nlm.nih.gov/pubmed/35886028
http://dx.doi.org/10.3390/genes13071245

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