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Article

Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction.

Journal of the neurological sciences - 15 Jan 2009

Corti Stefania, Donadoni Chiara, Ronchi Dario, Bordoni Andreina, Fortunato Francesco, Santoro Domenico, Del Bo Roberto, Lucchini Valeria, Crugnola Veronica, Papadimitriou Dimitra, Salani Sabrina, Moggio Maurizio, Bresolin Nereo, Comi Giacomo P

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative motor neuron disorder. Mutations in Cu,Zn superoxide dismutase (SOD1) cause approximately 20% of familial ALS. One of the possible mechanisms whereby they induce disease is mitochondrial dysfunction in motor neurons. Here we describe a patient with ALS and muscle mitochondrial oxidative defect associated with a novel SOD1 mutation. Direct sequencing...

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Source

Identifiers

PMID: 19000626
DOI: 10.1016/j.jns.2008.09.030

Genes

SOD1

Provenance

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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