Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death

BACKGROUND: Desmin is an intermediate filament protein that plays a critical role in the stabilization of the sarcomeres and cell contacts in the cardiac intercalated disk. Mutated DES gene can cause hereditary cardiomyopathy with heterogeneous phenotypes, while the underlying molecular mechanisms r...

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Detalles Bibliográficos
Autores principales: Liu, Yu-Xing, Yu, Rong, Sheng, Yue, Fan, Liang-Liang, Deng, Yao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9580399/
https://www.ncbi.nlm.nih.gov/pubmed/36277747
http://dx.doi.org/10.3389/fcvm.2022.971501

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9580399/
https://www.ncbi.nlm.nih.gov/pubmed/36277747
http://dx.doi.org/10.3389/fcvm.2022.971501

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