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Article

I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families.

Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Jan 2011

Gamez Josep, Caponnetto Claudia, Ferrera Loretta, Syriani Enrique, Marini Valeria, Morales Miguel, Bordo Domenico, Pirro Cristina, Garre Cecilia, Origone Paola

Abstract excerpt

We evaluated a possible genotype-phenotype correlation and looked for a founder effect in four Mediterranean families carrying the I112M SOD1 mutation. The structural characteristics of the mutated protein were also analysed. Clinical data of FALS subjects from four families were evaluated. Mutat...

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Identifiers

PMID: 20515426
DOI: 10.3109/17482968.2010.487906

Genes

SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20515426-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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