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  • 1.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden.
    Leren, Trond P.
    Medical Genetics Laboratory, Department of Medical Genetics, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
    Abdul-Hussein, Saba
    Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden.
    Tulinius, Mar
    Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden.
    Brunvand, Leif
    Department of Pediatrics, Ullevål University Hospital, Oslo, Norway.
    Dahl, Hilde M.
    Department of Pediatrics, Ullevål University Hospital, Oslo, Norway.
    Oldfors, Anders
    Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden.
    Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C2010In: Journal of Medical Genetics, ISSN 0022-2593, E-ISSN 1468-6244, Vol. 47, no 8, p. 575-577Article in journal (Refereed)
    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.

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