Genotype–Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel <i>GLA</i> Variant With Atypical Phenotype
The genotype and phenotype of Mexican patients with FD are similar to other populations. Atypical phenotype of FD, such as the one associated with the novel variant c.122C>G, can be a diagnostic challenge, as it can be mixed up with MS. Our findings confirm the limitations of noninvasive diagnostic methods and the necessity of the renal biopsy when the clinical suspicion of FD is high.
Authors
- Norma Uribe‐Uribe (ORCID: https://orcid.org/0000-0002-4429-1298)
- Eduardo R. Argaiz (ORCID: https://orcid.org/0000-0002-5542-6098)
- Pamela Rivero‐García (ORCID: https://orcid.org/0000-0003-2189-6523)
- Tamara N. Kimball (ORCID: https://orcid.org/0000-0002-1107-0771)
- J. Suárez (ORCID: https://orcid.org/0000-0002-7943-4172)
- Jorge Eduardo Gaytan‐Arocha (ORCID: https://orcid.org/0000-0002-2434-4655)
Institutions
- Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (MX)
- Universidad Nacional Autónoma de México (MX)
- Tecnológico de Monterrey (MX)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/mgg3.70039
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Universidad Nacional Autónoma de México