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Article

Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation.

Open heart - 1 Mar 2023

Valtola Kati, Hedman Marja, Kantola Ilkka, Walls Susanne, Helisalmi Seppo, Maria Maleeha, Raivo Joose, Auray-Blais Christiane, Kuusisto Johanna

Abstract excerpt

OBJECTIVE: To present phenotypic characteristics and biomarkers of a family with the rare mutation Thr410Ala of the α-galactosidase A gene (T410A/GLA) causing Fabry disease (FD). METHODS AND RESULTS: In a woman in her 60s with hypertrophic cardiomyopathy, T410A/GLA was found in screening for variants in 59 cardiomyopathy-related genes. Her son in his 40s, two granddaughters and two great grandsons carried...

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Identifiers

PMID: 36927868
DOI: 10.1136/openhrt-2023-002251
PMCID: PMC10030781

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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