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Article

A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.

Neurogenetics - 1 Dec 2017

Sancho Paula, Sánchez-Monteagudo Ana, Collado Antonio, Marco-Marín Clara, Domínguez-González Cristina, Camacho Ana, Knecht Erwin, Espinós Carmen, Lupo Vincenzo

Abstract excerpt

In two siblings, who suffer from an early childhood-onset axonal polyneuropathy with exclusive involvement of motor fibers, the c.629T>C (p.F210S) mutation was identified in the X-linked AIFM1 gene, which encodes for the apoptosis-inducing factor (AIF). The mutation was predicted as deleterious, according to in silico analysis. A decreased expression of the AIF protein, altered cellular morphology, and a...

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Source

Identifiers

PMID: 28975462
DOI: 10.1007/s10048-017-0524-6

Genes

AIFM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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