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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Nature Publishing Group 2012
विषय:
Short Report
ऑनलाइन पहुंच: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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