Nogueira, CeliaLaura, Vilarinho2019-04-092019-04-092018-12-31http://hdl.handle.net/10400.18/6374Goal: We applied NGS to the analysis of whole mtDNA that greatly facilitates the characterization of patients suspicious of mitochondrial diseases in a timely and cost-effective fashion. Therefore, a similar strategy will be developed for nuclear encoded genes as single gene analysis of a short list of nuclear genes requires considerable time, effort and cost.engMitochondrial DiseasesmtDNANext Generation SequencingNGSDoenças MitocondriaisDoenças Genéticasreport