Abstract
<h3>Objective:</h3> In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochondrial disease. <h3>Methods:</h3> The reported patients were identified from a cohort of 60 patients in whom RC enzyme deficiency suggested mitochondrial disease and underwent whole-exome sequencing. <h3>Results:</h3> Five patients had disease-causing variants in nonmitochondrial disease genes <i>ORAI1, CAPN3, COLQ, EXOSC8</i>, and <i>ANO10</i>, which would have been missed on targeted next-generation panels or on MitoExome analysis. <h3>Conclusions:</h3> Our data demonstrate that RC abnormalities may be secondary to various cellular processes, including calcium metabolism, neuromuscular transmission, and abnormal messenger RNA degradation.
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