Skeletal Muscle Involvement in Patients With Truncations of Titin and Familial Dilated Cardiomyopathy

التفاصيل البيبلوغرافية
العنوان: Skeletal Muscle Involvement in Patients With Truncations of Titin and Familial Dilated Cardiomyopathy
المؤلفون: Skriver, Sofie Vinther, Krett, Bjørg, Poulsen, Nanna Scharf, Krag, Thomas, Walas, Helle Rudkjær, Christensen, Alex Hørby, Bundgaard, Henning, Vissing, John, Vissing, Christoffer Rasmus
المصدر: JACC: Heart Failure; April 2024, Vol. 12 Issue: 4 p740-753, 14p
مستخلص: Genetic variants in titin (TTN) are associated with dilated cardiomyopathy (DCM) and skeletal myopathy. However, the skeletal muscle phenotype in individuals carrying heterozygous truncating TTNvariants (TTNtv), the leading cause of DCM, is understudied.
قاعدة البيانات: Supplemental Index
الوصف
تدمد:22131779
DOI:10.1016/j.jchf.2023.10.010