Haack, T. B., Haberberger, B., Frisch, E., Wieland, T., Iuso, A., Gorza, M., Strecker, V., Graf, E., Mayr, J. A., Herberg, U., Hennermann, J. B., Klopstock, T., Kuhn, K. A., Ahting, U., Sperl, W., Wilichowski, E., Hoffmann, G. F., Tesarova, M., Hansikova, H., Zeman, J., Plecko, B., Zeviani, M., Wittig, I., Strom, T. M., Schuelke, M., Freisinger, P., Meitinger, T., & Prokisch, H. (2012). molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. Journal of medical genetics, 49(4), 277–283. http://access.bl.uk/ark:/81055/vdc_100137794562.0x000034