Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease
MLSMD in skeletal muscle tissue were a common molecular finding (24%) in our cohort and consistently present in subjects ≥50 years. Among those with genetically undiagnosed MLSMD (n = 45), the "suspected" PMD subset (n = 13/45) represent a promising cohort for novel gene discoveries.
Authors
- James T. Peterson (ORCID: https://orcid.org/0000-0002-0480-5709)
- Vernon E. Anderson (ORCID: https://orcid.org/0000-0002-1699-7621)
- Angela N. Viaene (ORCID: https://orcid.org/0000-0001-6430-8360)
- Rui Xiao (ORCID: https://orcid.org/0000-0002-6313-4757)
- Maria Alejandra Diaz‐Miranda (ORCID: https://orcid.org/0000-0002-6062-8049)
- Zarazuela Zolkipli‐Cunningham (ORCID: https://orcid.org/0000-0002-0743-8879)
- Ada J. S. Chan
- Elizabeth M. McCormick (ORCID: https://orcid.org/0000-0002-5478-8046)
- Marni J. Falk (ORCID: https://orcid.org/0000-0002-1723-6728)
- Imon Rahaman (ORCID: https://orcid.org/0000-0002-8330-2498)
- Douglas C. Wallace (ORCID: https://orcid.org/0000-0002-7480-8278)
- Colleen Muraresku (ORCID: https://orcid.org/0000-0003-0045-1664)
- Emily Bogush
- Jing Wang (ORCID: https://orcid.org/0000-0002-7501-8702)
- Amy Goldstein (ORCID: https://orcid.org/0000-0002-7675-3063)
- Jhune Rizsan Santos (ORCID: https://orcid.org/0000-0001-6509-3648)
- Jean Flickinger
- Matthew C. Dulik
Institutions
- Children's Hospital of Philadelphia (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Frontiers in Pharmacology
- Published
- 2025-04-09
- DOI
- https://doi.org/10.3389/fphar.2025.1507493
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00