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Journal article

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.

Abstract:

OBJECTIVES: We sought to further define the role of sarcomere mutations in dilated cardiomyopathy (DCM) and associated clinical phenotypes. BACKGROUND: Mutations in several contractile proteins contribute to DCM, but definitive evidence for the roles of most sarcomere genes remains limited by the lack of robust genetic support. METHODS: Direct sequencing of 6 sarcomere genes was performed on 334 probands with DCM. A novel D230N missense mutation in the gene encoding alpha-tropomyosin (TPM1) w...

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Publication status:
Published

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Publisher copy:
10.1016/j.jacc.2009.11.017

Authors


Lakdawala, NK More by this author
Dellefave, L More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Cardiovascular Medicine, BHF Centre of Research Excellence
Cirino, AL More by this author
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Journal:
Journal of the American College of Cardiology
Volume:
55
Issue:
4
Pages:
320-329
Publication date:
2010-01-05
DOI:
EISSN:
1558-3597
ISSN:
0735-1097
URN:
uuid:4dcb0aa2-2a43-4938-85dd-0770b18ff1e2
Source identifiers:
104332
Local pid:
pubs:104332

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