Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review

RATIONALE: Dilated cardiomyopathy (DCM) is a cardiovascular disorder characterized by consecutive ventricular dilation and contractile dysfunction, often leading to congestive heart failure. DCM type 1Y (DCM1Y) is caused by a mutation in the TPM1 (tropomyosin 1) gene. To date, about thirty TPM1 gene...

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Detalles Bibliográficos
Autores principales: Man, Yilong, Yi, Changying, Fan, Meili, Yang, Tianyu, Liu, Peng, Liu, Shiguang, Wang, Guangxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
3400
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758022/
https://www.ncbi.nlm.nih.gov/pubmed/35029218
http://dx.doi.org/10.1097/MD.0000000000028551

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758022/
https://www.ncbi.nlm.nih.gov/pubmed/35029218
http://dx.doi.org/10.1097/MD.0000000000028551

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