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...

詳細記述

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書誌詳細
出版年:Mol Genet Genomic Med
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2019
主題:
Original Articles
オンライン･アクセス: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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