Mosaic pathogenic PRKAG2 variant and pathologic diagnosis of glycogen storage disease in an infant with negative whole-genome sequencing
pathogenic variant, confirming the diagnosis of PRKAG2 syndrome. This case suggests mosaicism should be considered in the diagnostic workup of early-onset cardiomyopathy.
Authors
- Vinicius D. Cabido
- Gregory A. Fishbein (ORCID: https://orcid.org/0000-0002-3632-5654)
- Judith Fan
- Marlin Touma (ORCID: https://orcid.org/0000-0002-2827-4068)
- Majid Husain
- Nancy Halnon (ORCID: https://orcid.org/0000-0002-8370-7831)
Institutions
- University of California, Los Angeles (US)
- University of California San Diego (US)
- Mattel Children's Hospital (US)
Publication Details
- Journal
- JHLT Open
- Published
- 2026-04-11
- DOI
- https://doi.org/10.1016/j.jhlto.2026.100562
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.00