CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation
This case underscores the diagnostic utility of genetic testing for NM when a muscle biopsy is not feasible. It also demonstrates the potential for symptom exacerbation or onset during pregnancy and highlights the importance of multidisciplinary supportive care and genetic counseling in the management of ACTA1-related NM.
Authors
- Fan Yang (ORCID: https://orcid.org/0000-0001-6841-1605)
- Wei Lu (ORCID: https://orcid.org/0000-0001-5876-0860)
- Yan Zhai
- Xinru Pei
Institutions
- Medtronic (Ireland) (IE)
- Wuhan University (CN)
- Zhongnan Hospital of Wuhan University (CN)
Publication Details
- Journal
- Medicine
- Published
- 2025-11-07
- DOI
- https://doi.org/10.1097/md.0000000000045459
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00