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

Ophthalmology AND mitochondrial

Mol Genet Metab. 2025 Feb 7;144(3):109049. doi: 10.1016/j.ymgme.2025.109049. Online ahead of print.

NO ABSTRACT

PMID:39986240 | DOI:10.1016/j.ymgme.2025.109049