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...

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Detalles Bibliográficos
Autores principales: Peng, Y, Xu, J, Wang, Y, Zhao, J, Zhang, L, Chen, Z, Jiang, Y, Banerjee, S, Zhang, Z, Bai, M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Original Article
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

Internet

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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