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Article

Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.

International journal of molecular sciences - 16 Sept 2020

Bernard Emilien, Pegat Antoine, Svahn Juliette, Bouhour Françoise, Leblanc Pascal, Millecamps Stéphanie, Thobois Stéphane, Guissart Claire, Lumbroso Serge, Mouzat Kevin

Abstract excerpt

Mutations in the copper zinc superoxide dismutase 1 (SOD1) gene are the second most frequent cause of familial amyotrophic lateral sclerosis (ALS). Nearly 200 mutations of this gene have been described so far. We report all SOD1 pathogenic variants identified in patients followed in the single ALS center of Lyon, France, between 2010 and 2020. Twelve patients from 11 unrelated families are described, including...

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Identifiers

PMID: 32948071
DOI: 10.3390/ijms21186807
PMCID: PMC7554847

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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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