Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2

Pathogenic variants in ACTN2, coding for alpha-actinin 2, are known to be rare causes of Hypertrophic Cardiomyopathy. However, little is known about the underlying disease mechanisms. Adult heterozygous mice carrying the Actn2 p.Met228Thr variant were phenotyped by echocardiography. For homozygous m...

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Detalles Bibliográficos
Autores principales: Broadway-Stringer, Sophie, Jiang, He, Wadmore, Kirsty, Hooper, Charlotte, Douglas, Gillian, Steeples, Violetta, Azad, Amar J., Singer, Evie, Reyat, Jasmeet S., Galatik, Frantisek, Ehler, Elisabeth, Bennett, Pauline, Kalisch-Smith, Jacinta I., Sparrow, Duncan B., Davies, Benjamin, Djinovic-Carugo, Kristina, Gautel, Mathias, Watkins, Hugh, Gehmlich, Katja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10001372/
https://www.ncbi.nlm.nih.gov/pubmed/36899856
http://dx.doi.org/10.3390/cells12050721

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10001372/
https://www.ncbi.nlm.nih.gov/pubmed/36899856
http://dx.doi.org/10.3390/cells12050721

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