A Promoter Deletion Confirms That
MYBPC3
Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans
Circ Genom Precis Med
.
2024 Feb;17(1):e004134.
doi: 10.1161/CIRCGEN.123.004134.
Epub 2024 Jan 23.
Authors
Jesse B G Hayesmoore
1
,
Michael Bowman
1
,
Nora Shannon
2
,
Edward Blair
3
,
Hugh Watkins
4
,
Kate L Thomson
1
Affiliations
1
Oxford Regional Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, United Kingdom (J.B.G.H., M.B., K.L.T.).
2
Clinical Genetics Service, Nottingham City Hospital, Nottingham University Hospitals NHS Trust, United Kingdom (N.S.).
3
Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, United Kingdom (E.B.).
4
Radcliffe Department of Medicine, Division of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, United Kingdom (H.W.).
PMID:
38258577
DOI:
10.1161/CIRCGEN.123.004134
No abstract available
Keywords:
cardiomyopathy, hypertrophic; fibrosis; haploinsufficiency; humans; sarcomeres.
MeSH terms
Cardiomyopathy, Hypertrophic* / genetics
Haploinsufficiency*
Humans
Myocardium
Substances
myosin-binding protein C
Grants and funding
CH/1992001/6764/BHF_/British Heart Foundation/United Kingdom
RG/18/9/33887/BHF_/British Heart Foundation/United Kingdom