The Y831C Mutation of the <i>POLG</i> Gene in Dementia

The Y831C Mutation of the <i>POLG</i> Gene in Dementia

Background: The POLG gene encodes the catalytic subunit of DNA polymerase γ, which is crucial for mitochondrial DNA (mtDNA) repair and replication. Gene mutation alters the stability of mtDNA and is associated with several clinical presentations, such as dysarthria and ophthalmoplegia (SANDO), progr...

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Bibliographic Details
Main Authors: Eugenia Borgione, Mariangela Lo Giudice, Sandro Santa Paola, Marika Giuliano, Giuseppe Lanza, Mariagiovanna Cantone, Raffaele Ferri, Carmela Scuderi
Format: Article
Language:English
Published: MDPI AG 2023-04-01
Series:Biomedicines
Subjects:
neurodegeneration
movement disorders
dementia
POLG
Y831C
Online Access:https://www.mdpi.com/2227-9059/11/4/1172

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