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Figure 1
Switch from the classical diagnostic approach ‘function first’ to NGS-based ‘genetics first’
Figure 2
A functional investigation by substrate oxidation analysis of fresh muscle biopsies reveals defects of (A) the pyruvate oxidation route and (B) ATP synthesis
Figure 3
Diagnostic approach (flow chart) in the ‘genetics first’ era
Figure 4
Timeline of the cumulative number of mitochondrial disease gene versus the year of the first report. (A) classical approach 1988–2009 and (B) genetics first approach 2010–2020 (March)
Figure 5
Clinical, genetic and functional competence with the interface between diagnostic and research are a prerequisite of diagnostic centres using the ‘genetics first’ approach