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Article

SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo.

European journal of human genetics : EJHG - 1 Jul 2022

Farrugia Wismayer Maia, Farrugia Wismayer Andrew, Pace Adrian, Vassallo Neville, Cauchi Ruben J

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is frequently caused by mutations in the SOD1 gene. Here, we report the first SOD1 variant in Malta, an archipelago of three inhabited islands in southern Europe. We describe a patient with a sporadic form of ALS living on the island of Gozo in which the heterozygous SOD1 c.272A>C; p.(Asp91Ala) variant was detected. The patient had a late onset (79 years), sensory impairments...

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Identifiers

PMID: 34616013
DOI: 10.1038/s41431-021-00975-x
PMCID: PMC9259738

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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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