Case report: ‘AARS2 leukodystrophy’

BACKGROUND: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is considered ultra-rare with only 39 cases of AARS2-...

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Detalles Bibliográficos
Autores principales: Axelsen, Tobias Melton, Vammen, Tzvetelina Lubenova, Bak, Mads, Pourhadi, Nelsan, Stenør, Christian Midtgaard, Grønborg, Sabine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280508/
https://www.ncbi.nlm.nih.gov/pubmed/34285876
http://dx.doi.org/10.1016/j.ymgmr.2021.100782

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280508/
https://www.ncbi.nlm.nih.gov/pubmed/34285876
http://dx.doi.org/10.1016/j.ymgmr.2021.100782

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