A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM), a genetically and clinically heterogeneous cardiomyopathy, is commonly caused by mutations in the MYBPC3 gene or other various sarcomeric genes. HCM patients carrying sarcomeric gene mutations may experience an asymptomatic period at early stage but still possess a...

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Detalles Bibliográficos
Autores principales: Ni, Erru, Wang, Tao, Zhang, Xuan, Xie, Huabin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10375074/
https://www.ncbi.nlm.nih.gov/pubmed/37271167
http://dx.doi.org/10.1002/ehf2.14424

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10375074/
https://www.ncbi.nlm.nih.gov/pubmed/37271167
http://dx.doi.org/10.1002/ehf2.14424

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