TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis

Biallelic TYMP variants result in the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a juvenile-onset disorder with progressive course and fatal outcome. Milder late-onset (>40 years) form has been rarely described. Gene panel sequencing in a cohort of 60 patients featuring mu...

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Bibliographic Details
Main Authors: Dario Ronchi, Leonardo Caporali, Giulia Francesca Manenti, Megi Meneri, Susan Mohamed, Andreina Bordoni, Francesca Tagliavini, Manuela Contin, Daniela Piga, Monica Sciacco, Cristina Saetti, Valerio Carelli, Giacomo Pietro Comi
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-08-01
Series:Frontiers in Genetics
Subjects:
mitochondrial myopathy
mitochondrial DNA instability
TYMP
mitochondrial neurogatrointestinal encephalomyopathy
mitochondrial DNA replication
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00860/full

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https://www.frontiersin.org/article/10.3389/fgene.2020.00860/full

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