Variant burden and severity of cardiomyopathy in patients with DMD-related Duchenne muscular dystrophy
This article identifies possible genetic modifiers of DMD cardiomyopathy severity via a novel method of looking at variant burden between groups. This adds to the existing literature by providing new evidence for modifier pathway targets for possible therapeutic targets or drug repurposing in a rare genetic disorder.
Authors
- Stephanie M. Ware (ORCID: https://orcid.org/0000-0003-4714-0142)
- Gabrielle C. Geddes (ORCID: https://orcid.org/0000-0003-2077-4997)
- Jonathan H. Soslow (ORCID: https://orcid.org/0000-0001-9194-5330)
- Conner C. Earl (ORCID: https://orcid.org/0000-0002-7916-3165)
- Larry W. Markham (ORCID: https://orcid.org/0000-0002-2804-4641)
- John J. Parent (ORCID: https://orcid.org/0000-0003-2909-3522)
- Marco A. Abreu
- Tae-Hwi Schwantes-An
Institutions
- Purdue University West Lafayette (US)
- Riley Hospital for Children (US)
- Indiana University School of Medicine
- Indiana University – Purdue University Indianapolis (US)
- Vanderbilt University Medical Center (US)
Publication Details
- Journal
- Pediatric Research
- Published
- 2026-01-07
- DOI
- https://doi.org/10.1038/s41390-025-04683-w
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institutes of Health
- National Heart, Lung, and Blood Institute