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 variants i...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMJ Publishing Group
2023-02-01
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| Series: | Open Heart |
| Online Access: | https://openheart.bmj.com/content/10/1/e002251.full |