Article
The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.
European journal of human genetics : EJHG - 1 Mar 2012
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
Abstract excerpt
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 unreported respiratory impairment. Our proband is an adult woman with ophthalmoparesis and respiratory impairment. Her...
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