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Article

Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene.

American journal of human genetics - 1 May 2002

Giess Ralf, Holtmann Bettina, Braga Massimiliano, Grimm Tiemo, Müller-Myhsok Bertram, Toyka Klaus V, Sendtner Michael

Abstract excerpt

Mutations in the copper/zinc superoxide dismutase 1 (SOD-1) gene are found in approximately 20% of patients with familial amyotrophic lateral sclerosis (FALS), or amyotrophic lateral sclerosis 1. Here we describe a 25-year-old male patient who died from FALS after a rapid disease course of 11 mo. Sequencing of the SOD-1 gene revealed a heterozygous T-->G exchange at position 1513 within exon 5, coding for a V-->G...

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Identifiers

PMID: 11951178
DOI: 10.1086/340427
PMCID: PMC447602

Genes

CNTF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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