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Article

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.

Neurogenetics - 1 Feb 2013

Arning Larissa, Epplen Jörg T, Rahikkala Elisa, Hendrich Corinna, Ludolph Albert C, Sperfeld Anne-Dorte

Abstract excerpt

Mutations in the senataxin (SETX) gene can cause amyotrophic lateral sclerosis 4 (ALS4), an autosomal dominant form of juvenile onset amyotrophic lateral sclerosis, or result in autosomal recessive ataxia with oculomotor apraxia type 2. Great caution regarding the possible disease causation, especially of missense variations, has to be taken. Here, we evaluated the significance of all previously reported SETX...

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Source

Identifiers

PMID: 23129421
DOI: 10.1007/s10048-012-0347-4

Genes

SETX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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