Respiratory chain deficiency in nonmitochondrial disease

Angela Pyle, Helen J. Nightingale, Helen Griffin, Angela Abicht, Janbernd Kirschner, Ivo Baric, Mario Cuk, Konstantinos Douroudis, Lea Feder, Markus Kratz, Birgit Czermin, Stephanie Kleinle, Mauro Santibanez-Koref, Veronika Karcagi, Elke Holinski-Feder, Patrick F. Chinnery, Rita Horvath

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9 Citations (Scopus)


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

Original languageEnglish
Article numbere6
JournalNeurology: Genetics
Issue number1
Publication statusPublished - Jun 2015


ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

Cite this

Pyle, A., Nightingale, H. J., Griffin, H., Abicht, A., Kirschner, J., Baric, I., Cuk, M., Douroudis, K., Feder, L., Kratz, M., Czermin, B., Kleinle, S., Santibanez-Koref, M., Karcagi, V., Holinski-Feder, E., Chinnery, P. F., & Horvath, R. (2015). Respiratory chain deficiency in nonmitochondrial disease. Neurology: Genetics, 1(1), [e6].