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

por Štufková, Hana, Kolářová, Hana, Lokvencová, Kateřina, Honzík, Tomáš, Zeman, Jiří, Hansíková, Hana, Tesařová, Markéta
Publicado 2022

Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

por Rákosníková, Tereza, Kelifová, Silvie, Štufková, Hana, Lokvencová, Kateřina, Lišková, Petra, Kousal, Bohdan, Honzík, Tomáš, Hansíková, Hana, Martínek, Václav, Tesařová, Markéta
Publicado 2023