Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy

BACKGROUND: Missense mutations in the mitochondrial alanyl-tRNA synthetase 2 (AARS2) gene are clinically associated with infantile mitochondrial cardiomyopathy or adult-onset leukoencephalopathy with early ovarian failure. To date, approximately 40 cases have been reported related to AARS2 mutations...

Descripción completa

Detalles Bibliográficos
Autores principales: Fan, Yan, Han, Jinming, Yang, Yanyan, Chen, Tuanzhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175470/
https://www.ncbi.nlm.nih.gov/pubmed/35676634
http://dx.doi.org/10.1186/s12883-022-02720-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175470/
https://www.ncbi.nlm.nih.gov/pubmed/35676634
http://dx.doi.org/10.1186/s12883-022-02720-3

Ejemplares similares