Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to <i>TWNK</i> Mutations

Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to <i>TWNK</i> Mutations

Autosomal dominant mutations in the <i>TWNK</i> gene, which encodes a mitochondrial DNA helicase, cause adult-onset progressive external ophthalmoplegia (PEO) and PEO-plus presentations. In this retrospective observational study, we describe clinical and complementary data from 25 PEO pa...

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Bibliographic Details
Main Authors: Laura Bermejo-Guerrero, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Pablo Serrano-Lorenzo, Alberto Blázquez-Encinar, Gerardo Gutiérrez-Gutiérrez, Laura Martínez-Vicente, Lucía Galán-Dávila, Jorge García-García, Joaquín Arenas, Nuria Muelas, Aurelio Hernández-Laín, Cristina Domínguez-González, Miguel A. Martín
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:Journal of Clinical Medicine
Subjects:
<i>TWNK</i> gene
mitochondrial dysfunction
mtDNA maintenance defects
progressive external ophthalmoplegia
Online Access:https://www.mdpi.com/2077-0383/11/1/22

Internet

https://www.mdpi.com/2077-0383/11/1/22

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