Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction

Mol Genet Metab. 2025 Mar;144(3):109049. doi: 10.1016/j.ymgme.2025.109049. Epub 2025 Feb 7.
No abstract available

Keywords: Heteroplasmy; Patient specific; Rare mitochondrial variant; Single cell arms-qPCR; iPSC variant modelling.

Publication types

  • Letter