Progressive External Ophthalmoplegia in Polish Patients—From Clinical Evaluation to Genetic Confirmation

Progressive External Ophthalmoplegia in Polish Patients—From Clinical Evaluation to Genetic Confirmation

Mitochondrial encephalomyopathies comprise a group of heterogeneous disorders resulting from impaired oxidative phosphorylation (OxPhos). Among a variety of symptoms progressive external ophthalmoplegia (PEO) seems to be the most common. The aim of this study is to present clinical and genetic chara...

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Bibliographic Details
Main Authors: Biruta Kierdaszuk, Magdalena Kaliszewska, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Katarzyna Tońska, Anna M. Kamińska, Anna Kostera-Pruszczyk
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:Genes
Subjects:
mitochondrial disorders
progressive external ophthalmoplegia
<i>POLG</i> gene
<i>TWNK</i> gene
<i>RNASEH1</i> gene
mitochondrial DNA deletions
Online Access:https://www.mdpi.com/2073-4425/12/1/54

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https://www.mdpi.com/2073-4425/12/1/54

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