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Year Number of Results
1998 1
2014 1
2018 1
2020 2
2021 2
2022 0
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Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
Benincá C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, J Robinson A, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, S F Santos ML, R de Souza RL, Fernandez-Vizarra E, Whitworth AJ, Zeviani M. Benincá C, et al. Among authors: degiorgi a. J Med Genet. 2021 Mar;58(3):155-167. doi: 10.1136/jmedgenet-2020-106861. Epub 2020 May 21. J Med Genet. 2021. PMID: 32439808 Free PMC article.
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease.
Hoyos-Gonzalez N, Trasviña-Arenas CH, Degiorgi A, Castro-Lara AY, Peralta-Castro A, Jimenez-Sandoval P, Diaz-Quezada C, Lodi T, Baruffini E, Brieba LG. Hoyos-Gonzalez N, et al. Among authors: degiorgi a. Biochim Biophys Acta Gen Subj. 2020 Jul;1864(7):129608. doi: 10.1016/j.bbagen.2020.129608. Epub 2020 Mar 29. Biochim Biophys Acta Gen Subj. 2020. PMID: 32234506