Article

Clinical and molecular characterization of a novel pathogenic AIFM1 E336K mutation connecting mitochondrial dysfunction and neurodegeneration

2026-02-18

Abstract excerpt

<title>Abstract</title> <p>Mutations in the AIFM1, which encodes the apoptosis-inducing factor (AIF), are associated with a broad spectrum of neurometabolic disorders, yet their pathogenic mechanisms remains incompletely defined. In this work, we identified and comprehensively characterized a novel hemizygous AIFM1 mutation, c1006G > A (E336K), in male patients with a progressive childhood onset hereditary axonal...

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Literature Corpus work: 44e2105c-a3ad-52ad-8cee-e3506f0020c3
DOI: 10.21203/rs.3.rs-8316196/v1

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