A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency
The novel c.1042_1043insCGGCA MYBPC3 mutation is a genetic basis for HCM due to c-MyBP-C haploinsufficiency.
Authors
- Yuanyuan Zhang
- Wenyan Gong (ORCID: https://orcid.org/0000-0001-6950-7545)
- Yu‐Sheng Cong (ORCID: https://orcid.org/0000-0002-1307-379X)
- Xingwei Zhang (ORCID: https://orcid.org/0009-0007-7591-3567)
- Zhelan Zheng (ORCID: https://orcid.org/0000-0003-2699-8924)
Institutions
- Hangzhou Normal University (CN)
- Affiliated Hospital of Hangzhou Normal University (CN)
- First Affiliated Hospital Zhejiang University (CN)
Publication Details
- Journal
- PLoS ONE
- Published
- 2025-10-24
- DOI
- https://doi.org/10.1371/journal.pone.0333096
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00