The novel mitochondrial tRNA(Asn) gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

Although mutations in mitochondrial tRNAs constitute the most common mtDNA defect, the presence of pathological variants in mitochondrial tRNA(Asn) is extremely rare. We were able to identify a novel mtDNA tRNA(Asn) gene pathogenic mutation associated with a myopathic phenotype and a previously unre...

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Bibliografiske detaljer
Main Authors: Ronchi, Dario, Sciacco, Monica, Bordoni, Andreina, Raimondi, Monika, Ripolone, Michela, Fassone, Elisa, Di Fonzo, Alessio, Rizzuti, Mafalda, Ciscato, Patrizia, Cosi, Alessandra, Servida, Maura, Moggio, Maurizio, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo P
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2012
Fag:
Short Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3283170/
https://ncbi.nlm.nih.gov/pubmed/22189266
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.238
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