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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.
Journal cover image

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