The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2 ‐Associated Visceral Myopathy
This research letter expands the phenotypic spectrum of ACTG2-associated autosomal dominant visceral myopathy to include isolated uterine involvement based on a case of an individual harboring a known pathogenic ACTG2 variant with uterine atony as her only symptom.
Authors
- Emily Muth
- Naomi Meeks
- Brady Slater (ORCID: https://orcid.org/0000-0001-6622-1672)
Institutions
- University of Colorado Denver (US)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2026-08-20
- DOI
- https://doi.org/10.1111/cge.70234
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00