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A Novel Loss-of-function Mutation in MYBPC3 Causes Familial Hypertrophic Cardiomyopathy with Extreme Intrafamilial Phenotypic Heterogeneity
Cardiomyopathies are a heterogeneous group of diseases predominantly affecting the heart muscle and often lead to progressive heart failure-related disability or cardiovascular death. Hypertrophic cardiomyopathy (HCM) is a cardiac muscle disorder mostly caused by the mutations in genes encoding card...
Autores principales: | Peng, Y, Xu, J, Wang, Y, Zhao, J, Zhang, L, Chen, Z, Jiang, Y, Banerjee, S, Zhang, Z, Bai, M |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sciendo
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9985356/ https://www.ncbi.nlm.nih.gov/pubmed/36880031 http://dx.doi.org/10.2478/bjmg-2022-0002 |
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