Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome

N. J. Lake, B. D. Webb, D. A. Stroud, T. R. Richman, B. Ruzzenente, A. G. Compton, H. S. Mountford, J. Pulman, C. Zangarelli, M. Rio, N. Bodaert, Z. Assouline, M. D. Sherpa, E. E. Schadt, S. M. Houten, J. Byrnes, E. M. McCormick, Z. Zolkipli-Cunningham, K. Haude, Z. ZhangK. Retterer, R. Bai, S. E. Calvo, V. K. Mootha, J. Christodoulou, A. Rotig, A. Filipovska, I. Cristian, M. J. Falk, M. D. Metodiev, D. R. Thorburn

Research output: Contribution to journalAbstract/Meeting Abstract

Original languageEnglish
Pages (from-to)860-861
Number of pages2
JournalEuropean Journal of Human Genetics
Volume27
Publication statusPublished - Jul 2019
Event51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) - Milan, Italy
Duration: 16 Jun 201819 Jun 2018

Cite this

Lake, N. J., Webb, B. D., Stroud, D. A., Richman, T. R., Ruzzenente, B., Compton, A. G., Mountford, H. S., Pulman, J., Zangarelli, C., Rio, M., Bodaert, N., Assouline, Z., Sherpa, M. D., Schadt, E. E., Houten, S. M., Byrnes, J., McCormick, E. M., Zolkipli-Cunningham, Z., Haude, K., ... Thorburn, D. R. (2019). Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome. European Journal of Human Genetics, 27, 860-861.