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
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, Tońska, Katarzyna, Szymanski, Michal R., Skorvanek, Matej, Ploski, Rafal
Published in European journal of medical genetics (01.04.2020)
Published in European journal of medical genetics (01.04.2020)
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Journal Article
Answer to Finsterer about “Multisystem presentation of a homozygous POLG2 variant”
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, Tońska, Katarzyna, Szymanski, Michal R., Skorvanek, Matej, Ploski, Rafal
Published in European journal of medical genetics (01.05.2020)
Published in European journal of medical genetics (01.05.2020)
Get full text
Journal Article