A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity

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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Bibliographic Details
Main Authors: Peng Y, Xu J, Wang Y, Zhao J, Zhang L, Chen Z, Jiang Y, Banerjee S, Zhang Z, Bai M
Format: Article
Language:English
Published: Sciendo 2023-03-01
Series:Balkan Journal of Medical Genetics
Subjects:
familial hypertrophic cardiomyopathy
mybpc3 gene
novel variant
heterozygous
loss-of-function.
Online Access:https://doi.org/10.2478/bjmg-2022-0002

Internet

https://doi.org/10.2478/bjmg-2022-0002

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