References
Cortopassi, G. A., Shibata, D., Soong, N. W., & Arnheim, N. (1992). A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues. Proceedings of the National Academy of Sciences of the United States of America89 (16), 7370–7374. https://doi.org/10.1073/pnas.89.16.7370
Feichtinger, R. G., Olahova, M., Kishita, Y., Garone, C., Kremer, L. S., Yagi, M., Uchiumi, T., Jourdain, A. A., Thompson, K., D’Souza, A. R., Kopajtich, R., Alston, C. L., Koch, J., Sperl, W., Mastantuono, E., Strom, T. M., Wortmann, S. B., Meitinger, T., Pierre, G., (…) & Prokisch, H. (2017). Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. American Journal of Human Genetics, 101, 525–538. doi: 10.1016/j.ajhg.2017.08.015
Finsterer, J. (2020) Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number. Human Mutation
He, L., Chinnery, P. F., Durham, S. E., Blakely, E. L., Wardell, T. M., Borthwick, G. M., Taylor, R. W., & Turnbull, D. M. (2002). Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic acids research30 (14), e68. https://doi.org/10.1093/nar/gnf067
Lehmann, D., Tuppen, H., Campbell, G. E., Alston, C. L., Lawless, C., Rosa, H. S., Rocha, M. C., Reeve, A. K., Nicholls, T. J., Deschauer, M., Zierz, S., Taylor, R. W., Turnbull, D. M., & Vincent, A. E. (2019). Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level. Nucleic acids research47 (14), 7430–7443. https://doi.org/10.1093/nar/gkz472
Mancuso, M., McFarland, R., Klopstock, T., Hirano, M., & consortium on Trial Readiness in Mitochondrial Myopathies. (2017) International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy. Neuromuscul Disorders , 27, 1126-1137. doi: 10.1016/j.nmd.2017.08.006.
Marchet, S., Legati, A., Nasca, A., Di Meo, I., Spagnolo, M., Zanetti, N., Lamantea, E., Catania, A., Lamperti, C., & Ghezzi, D. (2020). Homozygous mutations in C1QBP as cause of Progressive External Ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions. Human Mutation doi:10.1002/humu.24081
Viscomi, C., & Zeviani, M. (2017). MtDNA-maintenance defects: syndromes and genes. Journal of inherited metabolic disease40 (4), 587–599. https://doi.org/10.1007/s10545-017-0027-5