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

Lookup NU author(s): Dr Andrew Schaefer, Professor Robert TaylorORCiD

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Author(s): Belle K, Kreymerman A, Young JL, Vadgama N, Ji MH, Randhawa S, Caicedo J, Wong M, Muscat SP, Gifford CA, Lee RT, Nasir J, Enns GM, Karakikes I, Schaefer AM, Taylor RW, Mercola M, Koeberl D, Wood EH

Publication type: Letter

Publication status: Published

Journal: Molecular Genetics and Metabolism

Year: 2025

Volume: 144

Issue: 3

Print publication date: 01/03/2025

Online publication date: 07/02/2025

Acceptance date: 29/01/2025

ISSN (print): 1096-7192

ISSN (electronic): 1096-7206

Publisher: Academic Press Inc.

URL: https://doi.org/10.1016/j.ymgme.2025.109049

DOI: 10.1016/j.ymgme.2025.109049

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