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Article

Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutation.

Journal of neurology - 1 Oct 2000

Winter S M, Claus A, Oberwittler C, Völkel H, Wenzler S, Ludolph A C

Abstract excerpt

Mutations of the SOD1 gene encoding the free radical scavenging enzyme copper-zinc superoxide dismutase (CuZn-SOD) occur in patients with familial amyotrophic lateral sclerosis (ALS). Recent reports have shown homozygosity for a CuZn-SOD mutation in exon 4, the D90A (Asp90A1a) mutation. Other mutations described to date show an autosomal dominant pattern of inheritance. This is the first description of autosomal...

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Source

Identifiers

PMID: 11127534
DOI: 10.1007/s004150070093

Genes

SOD1

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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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