Genetic analysis and multimodal imaging identify novel mtDNA 12148T>C leading to multisystem dysfunction with tissue-specific heteroplasmy
Kinsley C. Belle, Alexander Kreymerman, Nirmal Vadgama, Marco H. Ji, Sandeep Randhawa, Juan Caicedo, Megan Y. Wong, Stephanie P. Muscat, Casey A. Gifford, Richard Theodore Lee, Jamal Nasir, Jill L Young, Gregory M. Enns, Ioannis Karakikes, Mark A. Mercola, Edward H. Wood
The paper identifies a novel mtDNA variant m.12148T>C associated with multisystem dysfunction and highlights the importance of tissue-specific heteroplasmy analysis.
medRxiv · Nov 3, 2023 · PreprintGenetic & Genomic Medicine