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Article

An Italian kindred with FALS due to c.149T>C mutation in the SOD1 gene: case report of an affected family member.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 May 2013

Trojsi Francesca, Piccirillo Giovanni, Femiano Cinzia, Damiano Raffaele, Rosaria Monsurrò Maria

Abstract excerpt

We report the first Italian kindred with Familial Amyotrophic Lateral Sclerosis (FALS) due to c.149T>C mutation in the exon 5 of superoxide dismutase-1 (SOD1) gene. The proband was a 49-year-old woman who came to our observation because of an history of progressive limbs weakness and gait impairment. She belonged to a family of 24 affected members. The prevalent phenotype of the affected members was characterized...

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Identifiers

PMID: 23853506
PMCID: PMC3665374

Genes

SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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