Table 1.

Biochemical data on patients with complex I deficiency due to ACAD9 mutations

Residual CI activity in fibroblasts = complex I activity normalized for citrate synthase, percentage of lowest control value (values in bold are normalized to COX activity); grey box = percentage of control mean. Residual CI activity in muscle = complex I activity normalized for citrate synthase activity for percentage of lowest control value; grey box = percentage of control mean. + symptom present, – symptom absent, Empty box if information is not available