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

Authors

Kinsley Belle
Alexander Kreymerman
Jill L Young
Nirmal Vadgama
Marco H Ji
Sandeep Randhawa, Corewell Health East
Juan Caicedo
Megan Wong
Stephanie P Muscat
Casey A Gifford

Document Type

Article

Publication Date

3-2025

Publication Title

Molecular genetics and metabolism

Volume

144

Issue

3

First Page

109049

Recommended Citation

Belle K, Kreymerman A, Young JL, Vadgama N, Ji MH, Randhawa S, et al 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. Erratum in: Mol Genet Metab. 2025 May;145(1):109100. doi: 10.1016/j.ymgme.2025.109100. PMID: 39986240.

DOI

10.1016/j.ymgme.2025.109100

ISSN

1096-7206

PubMed ID

39986240