A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects

BACKGROUND: Mutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects. METHODS: In this study, we describe a mutation in the MYH7 gene, c. 5754C > G; p. (Asn1918Lys), present in 15 probands and 65 family member...

Descripción completa

Detalles Bibliográficos
Autores principales: van der Linde, I. H. M., Hiemstra, Y. L., Bökenkamp, R., van Mil, A. M., Breuning, M. H., Ruivenkamp, C., ten Broeke, S. W., Veldkamp, R. F., van Waning, J. I., van Slegtenhorst, M. A., van Spaendonck-Zwarts, K. Y., Lekanne Deprez, R. H., Herkert, J. C., Boven, L., van der Zwaag, P. A., Jongbloed, J. D. H., Bootsma, M., Barge-Schaapveld, D. Q. C. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bohn Stafleu van Loghum 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5691818/
https://www.ncbi.nlm.nih.gov/pubmed/28864942
http://dx.doi.org/10.1007/s12471-017-1037-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5691818/
https://www.ncbi.nlm.nih.gov/pubmed/28864942
http://dx.doi.org/10.1007/s12471-017-1037-5

Ejemplares similares