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Article

Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS.

Muscle & nerve - 1 Jul 2007

Beck Marcus, Sendtner Michael, Toyka Klaus V

Abstract excerpt

Familial amyotrophic lateral sclerosis (ALS) is frequently associated with mutations in the SOD1 gene. We identified a rapidly progressive disease in a patient with an inherited ALS. The identified heterozygous T>A exchange in position 1067 in the SOD1 gene results in an amino acid substitution of lysine for asparagine at position 86 (N86K) of the SOD1 protein. The family history suggested that this autosomal...

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Source

Identifiers

PMID: 17299743
DOI: 10.1002/mus.20756

Genes

SOD1

Variants

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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