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

Molecular genetics and metabolism

Authors	Kinsley Belle Alexander Kreymerman Jill Young Nirmal Vadgama Marco Ji Sandeep Randhawa Juan Caicedo Megan Wong Stephanie Muscat Casey Gifford Richard Lee Jamal Nasir Gregory Enns Ioannis Karakikes Andrew Schaefer Robert Taylor Mark Mercola Dwight Koeberl Edward Wood
Keywords	heteroplasmy Patient specific Rare mitochondrial variant Single cell arms-qPCR iPSC variant modelling
Year of Publication	2025
Journal	Molecular genetics and metabolism
Volume	144
Issue	3
Pages	109049
Date Published	02/2025
ISSN	1096-7206
DOI	10.1016/j.ymgme.2025.109049
PubMed ID	39986240
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