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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565557/
https://ncbi.nlm.nih.gov/pubmed/30920170
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.654
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