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Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin-binding protein C.

Journal article
Authors Homa Tajsharghi
Trond P Leren
Saba Abdul-Hussein
Mar Tulinius
Leif Brunvand
Hilde M Dahl
Anders Oldfors
Published in Journal of medical genetics
Volume 47
Issue 8
Pages 575-577
ISSN 1468-6244
Publication year 2010
Published at Institute of Biomedicine, Department of Pathology
Institute of Clinical Sciences
Pages 575-577
Language en
Links dx.doi.org/10.1136/jmg.2009.072710
Subject categories Cell and Molecular Biology

Abstract

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. 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. RESULTS: The patient expressed the cardiac specific MyBPC isoform in skeletal muscle at transcript and protein levels. Numerous muscle fibers expressing the mutant cardiac isoform showed structural abnormalities with disorganization 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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