Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion

Kurtz, J., Fernandes, J. A., Mansukhani, M., Copeland, W. C., & Naini, A. B. (2021). Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion. Case Reports in Genetics, 2021, 1–7. https://doi.org/10.1155/2021/9969071

Authors:

Justin Kurtz

Joseph Americo Fernandes

Mahesh Mansukhani

William C Copeland

Ali B Naini

Affiliated Authors:

Justin Kurtz

Mahesh Mansukhani

Ali B Naini

Columbia Affiliation: