Genotype–phenotype correlations in familial hypertrophic cardiomyopathy A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes | Zendy

Philippe Charron | Zendy

Open Access

Genotype–phenotype correlations in familial hypertrophic cardiomyopathy A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes

Author(s) -

Philippe Charron

Publication year - 1998

Publication title -

european heart journal

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 4.336

H-Index - 293

eISSN - 1522-9645

pISSN - 0195-668X

DOI - 10.1053/euhj.1997.0575

Subject(s) - hypertrophic cardiomyopathy , penetrance , genetics , medicine , myh7 , gene , mutation , locus (genetics) , gene mutation , phenotype , biology , gene isoform

The gene involved in familial hypertrophic cardiomyopathy on chromosome 11 was recently identified as the cardiac myosin binding protein-C (MyBP-C) gene. The phenotype of two families associated with mutation in this gene is described here and compared to that of five families with mutations in the beta-myosin heavy chain gene.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research