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Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C
Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden.ORCID iD: 0000-0001-8854-5213
Medical Genetics Laboratory, Department of Medical Genetics, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden.
Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden.
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2010 (English)In: Journal of Medical Genetics, ISSN 0022-2593, E-ISSN 1468-6244, Vol. 47, no 8, 575-577 p.Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Myosin 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 RESULTS: We have identified an infant with fatal cardiomyopathy due to a homozygous mutation, p.R943X, in MYBPC3. The patient also had an unexpected skeletal myopathy. The patient expressed the cardiac specific MyBPC isoform in skeletal muscle at transcript and protein levels. Numerous muscle fibres expressing the mutant cardiac isoform showed structural abnormalities with disorganisation of sarcomeres and depletion of myosin thick filaments.

CONCLUSIONS: The surprising identification of a skeletal myopathy in this patient was due to aberrant expression of mutant cardiac MyBPC in skeletal muscle.

Place, publisher, year, edition, pages
BMJ Publishing Group , 2010. Vol. 47, no 8, 575-577 p.
National Category
Neurology
Research subject
Medical sciences
Identifiers
URN: urn:nbn:se:his:diva-11960DOI: 10.1136/jmg.2009.072710ISI: 000280274200011PubMedID: 19858127Scopus ID: 2-s2.0-77956131977OAI: oai:DiVA.org:his-11960DiVA: diva2:906955
Available from: 2016-02-25 Created: 2016-02-25 Last updated: 2016-03-04Bibliographically approved

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CiteExportLink to record
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Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
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More styles
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