A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy — A case report
Adult-onset leukoencephalopathies may present with milder clinical signs than what is generally perceived, and novel disease-causing variants are being identified.
Authors
- João Tarrio
- João Parente Freixo (ORCID: https://orcid.org/0000-0002-8358-6267)
- Jorge Belarmino Ferreira de Oliveira (ORCID: https://orcid.org/0000-0002-9391-5191)
- João Moura (ORCID: https://orcid.org/0000-0002-4212-906X)
- Gonçalo Videira (ORCID: https://orcid.org/0000-0001-9037-3449)
- Ana Lopes (ORCID: https://orcid.org/0000-0001-5094-258X)
- Joana Fernandes (ORCID: https://orcid.org/0000-0001-5835-4061)
Institutions
- Administração Regional de Saúde de Lisboa e Vale do Tejo (PT)
- Hospital de Santo António (PT)
- i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (PT)
- Hospital Dr. Nélio Mendonça (PT)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2024-10-31
- DOI
- https://doi.org/10.1016/j.ymgmr.2024.101157
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00