<i>RMND1</i> and <i>PLN</i> variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patient
Recent studies have established an association between <i>RMND1</i> variants and Perrault syndrome. In this case report, we present a female patient with Perrault syndrome and cardiomyopathy, resulting from variants in <i>RMND1</i> and <i>PLN</i>, respectively.
Authors
- Robert J. Hopkin (ORCID: https://orcid.org/0000-0003-0770-5516)
- Yaning Wu (ORCID: https://orcid.org/0000-0002-5591-9335)
- K. Nicole Weaver (ORCID: https://orcid.org/0000-0002-3991-135X)
- Diana S. Brightman (ORCID: https://orcid.org/0000-0001-7681-915X)
- Xinjian Wang (ORCID: https://orcid.org/0009-0001-3962-6663)
- Xiaoli Du (ORCID: https://orcid.org/0000-0003-1893-8526)
- Cara L. Barnett
- Kimberly Widmeyer
- Carolee W. Noonan
Institutions
- Cincinnati Children's Hospital Medical Center (US)
- University of Cincinnati (US)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2024-10-31
- DOI
- https://doi.org/10.1002/ccr3.9537
- Citations
- 2
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.47