Spastic Paraplegia Type 78 Associated With <i>ATP13A2</i> Gene Variants in Compound Heterozygosity
These findings suggest that the two variants are pathogenic when occurring in compound heterozygosity and, therefore, should be included in the genetic spectrum of SPG78 diagnosis.
Authors
- Eric Seiti Yamanaka (ORCID: https://orcid.org/0000-0002-8264-6512)
- Rosa Ramírez (ORCID: https://orcid.org/0009-0004-2888-7595)
- J. D. Arroyo Andújar (ORCID: https://orcid.org/0009-0004-9559-2201)
- Nicolas Gasco (ORCID: https://orcid.org/0009-0007-2798-9970)
- L. Ruiz Palmero (ORCID: https://orcid.org/0009-0003-0159-9457)
- G. A. Ribes Bueno (ORCID: https://orcid.org/0009-0000-9081-9332)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1002/mgg3.70073
- Citations
- 1
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.91