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Journal article

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

Abstract:

Familial hypertrophic cardiomyopathy (HCM) has been widely studied as a genetic model of cardiac hypertrophy and sudden cardiac death. HCM has been defined as a disease of the cardiac sarcomere, but mutations in the known contractile protein disease genes are not found in up to one-third of cases. Further, no consistent changes in contractile properties are shared by these mutant proteins, implying that an abnormality of force generation may not be the underlying mechanism of disease. Instead...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/10.11.1215

Authors


Redwood, C More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Cardiovascular Medicine, BHF Centre of Research Excellence
Oliveira, M More by this author
Broxholme, J More by this author
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Journal:
Human molecular genetics
Volume:
10
Issue:
11
Pages:
1215-1220
Publication date:
2001-05-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:1a9f01eb-4cc8-4979-8e2f-0ca008ff65d6
Source identifiers:
104206
Local pid:
pubs:104206

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