Journal article icon

Journal article

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.

Abstract:

RATIONALE: Most sarcomere gene mutations that cause hypertrophic cardiomyopathy are missense alleles that encode dominant negative proteins. The potential exceptions are mutations in the MYBPC3 gene (encoding cardiac myosin-binding protein-C [MyBP-C]), which frequently encode truncated proteins. OBJECTIVE: We sought to determine whether there was evidence of haploinsufficiency in hypertrophic cardiomyopathy caused by MYBPC3 mutations by comparing left ventricular muscle from patients undergoi...

Expand abstract
Publication status:
Published

Actions


Access Document


Authors


Marston, S More by this author
Copeland, O More by this author
Jacques, A More by this author
Livesey, K More by this author
Expand authors...
Journal:
Circulation research
Volume:
105
Issue:
3
Pages:
219-222
Publication date:
2009-07-05
DOI:
EISSN:
1524-4571
ISSN:
0009-7330
URN:
uuid:868622a6-ffb7-4b2a-8156-cc2f6d5dacc2
Source identifiers:
104238
Local pid:
pubs:104238

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP