Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3

Key Clinical Message We think that the main interests of this study are the report of a new mutation in gene MYBPC3 as a cause of Hypertrophic cardiomyopathy (HMC), and the verification of the fact that not always is the number of mutations related to the severity of the disease. We think that the m...

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Bibliographic Details
Published in:Clinical case reports 2017-03, Vol.5 (3), p.232-237
Main Authors: Aurensanz Clemente, Esther, Ayerza Casas, Ariadna, García Lasheras, Cecilia, Ramos Fuentes, Feliciano, Bueno Martínez, Ines, Pelegrín Díaz, Juana, Ruiz Frontera, Pablo, Montserrat Iglesias, Lorenzo
Format: Article
Language:English
Subjects:
Age
Cardiology
Cardiomyopathy
Cardiovascular disease
Case Report
Case Reports
Electrocardiography
Families & family life
Genes
Genetic counseling
Genetics
Genotype & phenotype
hypertrophic cardiomyopathy
Mutation
MYH7
myosin‐binding protein C
Patients
Ultrasonic imaging
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Summary:Key Clinical Message We think that the main interests of this study are the report of a new mutation in gene MYBPC3 as a cause of Hypertrophic cardiomyopathy (HMC), and the verification of the fact that not always is the number of mutations related to the severity of the disease. We think that the main interests of this study are the report of a new mutation in gene MYBPC3 as a cause of Hypertrophic cardiomyopathy (HMC), and the verification of the fact that not always is the number of mutations related to the severity of the disease.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.832