Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy

RBM20 is a disease-causing gene associated with dilated cardiomyopathy (DCM). The proband presented with the dilated phase of hypertrophic cardiomyopathy (HCM), and the mother also suffered from HCM. A missense variant of RBM20, p.Arg636His, previously reported as pathogenic in several families with...

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Detalles Bibliográficos
Autores principales: Inagaki, Natsuko, Hayashi, Takeharu, Takei, Yasuyoshi, Kosuge, Hisanori, Suzuki, Shinji, Tanimoto, Kousuke, Chikamori, Taishiro, Kimura, Akinori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857244/
https://www.ncbi.nlm.nih.gov/pubmed/35181673
http://dx.doi.org/10.1038/s41439-022-00183-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857244/
https://www.ncbi.nlm.nih.gov/pubmed/35181673
http://dx.doi.org/10.1038/s41439-022-00183-z

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