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A cardiac and skeletal muscle disorder caused by variation in the gene ACTN2. Cardiac features include but are not limited to cardiac features such as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmias, left ventricular non-compaction, and left-dominant arrhythmogenic cardiomyopathy. Skeletal features include but are not limited to progressive distal and/or proximal muscle weakness, gait disturbance, muscle atrophy, and elevated creatine kinase.
Biomarker and diagnostic research for ACTN2-related cardiac and skeletal myopathy has been reported in the published literature.
No clinical trials have been registered for ACTN2-related cardiac and skeletal myopathy.
184 publications have been identified in PubMed for ACTN2-related cardiac and skeletal myopathy. Research spans Basic Science / Preclinical (23%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 40 | 23% |
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 11:32 AM UTC
Common questions about ACTN2-related cardiac and skeletal myopathy
Research summaries
30 |
17% |
Patient case studies | 30 | 17% |
Clinical study results | 27 | 15% |
Disease patterns and progression | 25 | 14% |
Testing and diagnosis research | 17 | 10% |
Other research | 5 | 3% |
New treatment approaches | 2 | 1% |
Huang J (2026). [PMID: 41557590](https://pubmed.ncbi.nlm.nih.gov/41557590/). *Ann Noninvasive Electrocardiol*. [Case Report / Case Series]
Jiang J (2026). [PMID: 41580760](https://pubmed.ncbi.nlm.nih.gov/41580760/). *J Transl Med*. [Diagnostic / Biomarker]
Ifuku T (2026). [PMID: 41789022](https://pubmed.ncbi.nlm.nih.gov/41789022/). *J Cardiol Cases*. [Case Report / Case Series]
Rossano JW (2026). [PMID: 41910394](https://pubmed.ncbi.nlm.nih.gov/41910394/). *N Engl J Med*. [Basic Science / Preclinical]
de Villiers C (2026). [PMID: 41672210](https://pubmed.ncbi.nlm.nih.gov/41672210/). *Heart Rhythm*. [Basic Science / Preclinical]
Österberg AW (2026). [PMID: 40472950](https://pubmed.ncbi.nlm.nih.gov/40472950/). *Heart Rhythm*. [Epidemiology / Natural History]
McGurk KA (2026). [PMID: 42053478](https://pubmed.ncbi.nlm.nih.gov/42053478/). *J Am Coll Cardiol*. [Clinical Trial Publication]
Wang Y (2026). [PMID: 41391576](https://pubmed.ncbi.nlm.nih.gov/41391576/). *Cardiovasc Pathol*. [Clinical Trial Publication]
Strubchevska K (2026). [PMID: 41680975](https://pubmed.ncbi.nlm.nih.gov/41680975/). *Cardiol Rev*. [Review / Meta-Analysis]
Hassan ZY (2026). [PMID: 42015828](https://pubmed.ncbi.nlm.nih.gov/42015828/). *Future Cardiol*. [Case Report / Case Series]
AI-curated news mentioning ACTN2-related cardiac and skeletal myopathy
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.