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

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 variant...

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Detalles Bibliográficos
Autores principales: Valtola, Kati, Hedman, Marja, Kantola, Ilkka, Walls, Susanne, Helisalmi, Seppo, Maria, Maleeha, Raivo, Joose, Auray-Blais, Christiane, Kuusisto, Johanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Heart Failure and Cardiomyopathies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10030781/
https://www.ncbi.nlm.nih.gov/pubmed/36927868
http://dx.doi.org/10.1136/openhrt-2023-002251

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10030781/
https://www.ncbi.nlm.nih.gov/pubmed/36927868
http://dx.doi.org/10.1136/openhrt-2023-002251

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