Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin bind...
Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C
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Publisher
London: BMJ Publishing Group Ltd
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Language
English
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Publisher
London: BMJ Publishing Group Ltd
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BackgroundMyosin binding protein C (MyBPC) is essential for the structure of the sarcomeres in striated muscle. There is one cardiac specific isoform and two skeletal muscle specific isoforms. Mutations in MYBPC3 encoding the cardiac isoform cause cardiomyopathy.Methods and resultsWe have identified an infant with fatal cardiomyopathy due to a homo...
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Full title
Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C
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Record Identifier
TN_cdi_swepub_primary_oai_gup_ub_gu_se_108123
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_gup_ub_gu_se_108123
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.2009.072710
