Article

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

2021-06-25

Abstract excerpt

<h4>Background</h4> The spectrum of mitochondrial disease is genetically and phenotypically diverse, resulting from pathogenic variants in over 400 genes, with aerobic energy metabolism defects as a common denominator. Such heterogeneity poses a significant challenge in making an accurate diagnosis, critical for precision medicine. <h4>Methods</h4> In an international collaboration initiated by the European Netw...

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Literature Corpus work: 3c83639c-3dee-5996-b6c0-a1c4fd195805
DOI: 10.1101/2021.06.21.21259171

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