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New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Biochimica et biophysica acta - 1 Aug 2016

Legati Andrea, Reyes Aurelio, Nasca Alessia, Invernizzi Federica, Lamantea Eleonora, Tiranti Valeria, Garavaglia Barbara, Lamperti Costanza, Ardissone Anna, Moroni Isabella, Robinson Alan, Ghezzi Daniele, Zeviani Massimo

Abstract excerpt

Next Generation Sequencing (NGS) technologies are revolutionizing the diagnostic screening for rare disease entities, including primary mitochondrial disorders, particularly those caused by nuclear gene defects. NGS approaches are able to identify the causative gene defects in small families and even single individuals, unsuitable for investigation by traditional linkage analysis. These technologies are...

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PMID: 26968897
DOI: 10.1016/j.bbabio.2016.02.022

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