Article
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
Journal of human genetics - 1 Apr 2018
Ciara Elżbieta, Rokicki Dariusz, Lazniewski Michal, Mierzewska Hanna, Jurkiewicz Elżbieta, Bekiesińska-Figatowska Monika, Piekutowska-Abramczuk Dorota, Iwanicka-Pronicka Katarzyna, Szymańska Edyta, Stawiński Piotr, Kosińska Joanna, Pollak Agnieszka, Pronicki Maciej, Plewczyński Dariusz, Płoski Rafał, Pronicka Ewa
Abstract excerpt
Most of the 19 mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) involved in mitochondrial protein synthesis are already linked to specific entities, one of the exceptions being PARS2 mutations for which pathogenic significance is not finally validated. The aim of the study was to characterize the PARS2- related phenotype.Three siblings with biallelic PARS2 mutations presented from birth with infantile spasms,...
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