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Article

Age and founder effect of SOD1 A4V mutation causing ALS.

Neurology - 12 May 2009

Saeed M, Yang Y, Deng H-X, Hung W-Y, Siddique N, Dellefave L, Gellera C, Andersen P M, Siddique T

Abstract excerpt

BACKGROUND: The alanine to valine mutation at codon 4 (A4V) of SOD1 causes a rapidly progressive dominant form of amyotrophic lateral sclerosis (ALS) with exclusively lower motor neuron disease and is responsible for 50% of SOD1 mutations associated with familial ALS in North America. This mutation is rare in Europe. The authors investigated the origin (geographic and time) of the A4V mutation. METHODS: Several...

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Identifiers

PMID: 19176896
DOI: 10.1212/01.wnl.0000343509.76828.2a
PMCID: PMC2683645

Genes

SOD1

Variants

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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