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Article

Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia.

Brain : a journal of neurology - 1 Oct 1997

Andersen P M, Nilsson P, Keränen M L, Forsgren L, Hägglund J, Karlsborg M, Ronnevi L O, Gredal O, Marklund S L

Abstract excerpt

Four-hundred and fifty-one blood samples from Scandinavian patients with motor neuron disease were analysed for mutations in the CuZn-superoxide dismutase gene. Forty-one (9.6%) of the 427 patients with the amyotrophic lateral sclerosis (ALS) form of the disease were found to have a disease-associated mutation, and 14 of these patients were apparently sporadic cases. A mutation was found in 12 of the 51 families...

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Identifiers

PMID: 9365366
DOI: 10.1093/brain/120.10.1723

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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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