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2021 4
2022 1
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Cytochrome c oxidase deficiency.
Brischigliaro M, Zeviani M. Brischigliaro M, et al. Biochim Biophys Acta Bioenerg. 2021 Jan 1;1862(1):148335. doi: 10.1016/j.bbabio.2020.148335. Epub 2020 Nov 7. Biochim Biophys Acta Bioenerg. 2021. PMID: 33171185 Free article. Review.
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: brischigliaro m. 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.