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-Reference-Cited by-同舟云学术

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

Published:2020-04 Issue:4 Volume:63 Page:103821
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

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

Funder

Narodowe Centrum Nauki

Vedecká Grantová Agentúra MŠVVaŠ SR a SAV

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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3. A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase gamma subunits;Craig;Mitochondrion,2012

4. Inducible nitric oxide synthase-mediated alteration of mitochondrial OPA1 expression in ocular hypertensive rats;Dai;Investig. Ophthalmol. Vis. Sci.,2011

5. MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder;Heimer;Am. J. Hum. Genet.,2016

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