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Article

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature.

American journal of medical genetics. Part A - 1 Aug 2026

Mohr Jacob, Frederiksen Anja Lisbeth, Duno Morten, Hermann Anne Pernille, Juul Trine Maxel, Nielsen Simone Rask

Abstract excerpt

Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders. We present a case report of a woman diagnosed with the rare mtDNA variant...

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PMID: 41856674
DOI: 10.1002/ajmg.a.70134

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