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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Mol Genet Genomic Med
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: John Wiley and Sons Inc. 2019
विषय:
Original Articles
ऑनलाइन पहुंच: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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