👤 Rimvydas Jonikas

🔍 Search 📋 Browse 🏷️ Tags ❤️ Favourites ➕ Add 🧬 Extraction
1
Articles
articles
Marius Šukys, Eglė Ereminienė, Kristina Aleknavičienė +4 more · 2025 · International journal of molecular sciences · MDPI · added 2026-04-24
Hypertrophic cardiomyopathies (HCMs) are among the most common genetic disorders; however, they might be underdiagnosed. Sequencing core sarcomere gene panels remain the main diagnostic tool. We prese Show more
Hypertrophic cardiomyopathies (HCMs) are among the most common genetic disorders; however, they might be underdiagnosed. Sequencing core sarcomere gene panels remain the main diagnostic tool. We present the results of HCM genetic testing performed at Lithuania's tertiary care center. All patients with diagnosed or clinically suspected HCM underwent next-generation panel sequencing. Of 204 patients, 34 (16.7%) received a genetic diagnosis. The most commonly affected genes were Show less
📄 PDF DOI: 10.3390/ijms27010221
MYBPC3