Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.
Publication
, Journal Article
Belle, K; Kreymerman, A; Young, JL; Vadgama, N; Ji, MH; Randhawa, S; Caicedo, J; Wong, M; Muscat, SP; Gifford, CA; Lee, RT; Nasir, J ...
Published in: Mol Genet Metab
March 2025
Duke Scholars
Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
March 2025
Volume
144
Issue
3
Start / End Page
109049
Location
United States
Related Subject Headings
- Genetics & Heredity
- 3202 Clinical sciences
- 3105 Genetics
- 1103 Clinical Sciences
Citation
APA
Chicago
ICMJE
MLA
NLM
Belle, K., Kreymerman, A., Young, J. L., Vadgama, N., Ji, M. H., Randhawa, S., … Wood, E. H. (2025). Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction. Mol Genet Metab, 144(3), 109049. https://doi.org/10.1016/j.ymgme.2025.109049
Belle, Kinsley, Alexander Kreymerman, Jill L. Young, Nirmal Vadgama, Marco H. Ji, Sandeep Randhawa, Juan Caicedo, et al. “Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.” Mol Genet Metab 144, no. 3 (March 2025): 109049. https://doi.org/10.1016/j.ymgme.2025.109049.
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.
Belle, Kinsley, et al. “Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.” Mol Genet Metab, vol. 144, no. 3, Mar. 2025, p. 109049. Pubmed, doi:10.1016/j.ymgme.2025.109049.
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. 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.
Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
March 2025
Volume
144
Issue
3
Start / End Page
109049
Location
United States
Related Subject Headings
- Genetics & Heredity
- 3202 Clinical sciences
- 3105 Genetics
- 1103 Clinical Sciences