Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion
Titel:
Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion
Auteur:
Dosekova, Petra Dubiel, Andrzej Karlowicz, Anna Zietkiewicz, Szymon Rydzanicz, Malgorzata Habalova, Viera Pienkowski, Victor Murcia Skirkova, Miriam Han, Vladimir Mosejova, Alexandra Gdovinova, Zuzana Kaliszewska, Magdalena ToĊska, Katarzyna Szymanski, Michal R. Skorvanek, Matej Ploski, Rafal