Article

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.

2023-05-05

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: The <italic>MT-ATP6</italic> gene is a mitochondrial gene which encodes for the intramembrane subunit 6 (or A) of the mitochondrial ATP synthase. The latter corresponds to mitochondrial complex V, which intervenes in the last step of oxidative phosphorylation to produce cellular ATP through aerobic metabolism. Although classically associated with the NARP syndro...

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Literature Corpus work: 85a70db8-b789-5afb-87ae-32028de28588
DOI: 10.21203/rs.3.rs-2660371/v1

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