AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy

BACKGROUND: Mutations in the mitochondrial alanyl‐transfer (t)RNA synthetase 2 (AARS2,OMIM:612035) have been linked to leukoencephalopathy recently. Till now, there have been 19 cases reported so far. However, the clinical and genetic characteristics of this disease are not fully understood. We repo...

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Detalles Bibliográficos
Autores principales: Tang, Yi, Qin, Qi, Xing, Yi, Guo, Dongmei, Di, Li, Jia, Jianping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465728/
https://www.ncbi.nlm.nih.gov/pubmed/30706699
http://dx.doi.org/10.1002/mgg3.582

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465728/
https://www.ncbi.nlm.nih.gov/pubmed/30706699
http://dx.doi.org/10.1002/mgg3.582

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