Answer to Finsterer about “Multisystem presentation of a homozygous POLG2 variant”-Reference-Cited by-同舟云学术

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Answer to Finsterer about “Multisystem presentation of a homozygous POLG2 variant”

Published:2020-05 Issue:5 Volume:63 Page:103900
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

Slovak Scientific Grant Agency

National Science Centre (NCN) Poland

National Science Centre, Poland

European Union's Horizon 2020 research and innovation programme

Marie Skłodowska-Curie

POLONEZ

European Regional Development Fund

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference4 articles.

1. Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1;Ferraris;Arch. Neurol.,2008

2. A POLG2 homozygous mutation in an autosomal recessive epilepsy family without ophthalmoplegia;Lee;J. Clin. Neurol.,2019

3. Magnetic Resonance Imaging in Movement Disorders: A Guide for Clinicians and Scientists,2013

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