Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy

BACKGROUND: Mutations in mitochondrial aminoacyl tRNA synthetases form a subgroup of mitochondrial disorders often only perturbing brain function by affecting mitochondrial translation. Here we report two siblings with mitochondrial disease, due to compound heterozygous mutations in the mitochondria...

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Detalles Bibliográficos
Autores principales: Maffezzini, Camilla, Laine, Isabelle, Dallabona, Cristina, Clemente, Paula, Calvo‐Garrido, Javier, Wibom, Rolf, Naess, Karin, Barbaro, Michela, Falk, Anna, Donnini, Claudia, Freyer, Christoph, Wredenberg, Anna, Wedell, Anna
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/PMC6565557/
https://www.ncbi.nlm.nih.gov/pubmed/30920170
http://dx.doi.org/10.1002/mgg3.654

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565557/
https://www.ncbi.nlm.nih.gov/pubmed/30920170
http://dx.doi.org/10.1002/mgg3.654

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