NC_012920.1[Secondary Source ID] - Search Results

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Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G>A mutation presents with incomplete penetrance and sex bias.

Zhong S, Wen S, Qiu Y, Yu Y, Xin L, He Y, Gao X, Fang H, Hong D, Zhang J. Zhong S, et al. Mol Genet Genomic Med. 2019 Mar;7(3):e541. doi: 10.1002/mgg3.541. Epub 2019 Jan 8. Mol Genet Genomic Med. 2019. PMID: 30623604 Free PMC article.

Carbonic anhydrases are involved in mitochondrial biogenesis and control the production of lactate by human Sertoli cells.

Bernardino RL, Dias TR, Moreira BP, Cunha M, Barros A, Oliveira E, Sousa M, Alves MG, Oliveira PF. Bernardino RL, et al. FEBS J. 2019 Apr;286(7):1393-1406. doi: 10.1111/febs.14779. Epub 2019 Feb 18. FEBS J. 2019. PMID: 30724485 Free article.

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.

Darin N, Hedberg-Oldfors C, Kroksmark AK, Moslemi AR, Kollberg G, Oldfors A. Darin N, et al. Eur J Neurol. 2017 Apr;24(4):587-593. doi: 10.1111/ene.13249. Epub 2017 Feb 9. Eur J Neurol. 2017. PMID: 28181352

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