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Article

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

8 Jan 2020

Abstract excerpt

Objective To describe the clinical and functional consequences of 1 novel and 1 previously reported truncating MT-ATP6 mutation. Methods Three unrelated probands with mitochondrial encephalomyopathy harboring truncating MT-ATP6 mutations are reported. Transmitochondrial cybrid cell studies were used to confirm pathogenicity of 1 novel variant, and the effects of all 3 mutations on ATPase 6 and complex V structure...

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PMID: 32042910
DOI: 10.1212/nxg.0000000000000381

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