Myosin storage myopathy associated with a heterozygous missense mutation in MYH7
2003 (English)In: Annals of Neurology, ISSN 0364-5134, E-ISSN 1531-8249, Vol. 54, no 4, 494-500 p.Article in journal (Refereed) Published
Myosin constitutes the major part of the thick filaments in the contractile apparatus of striated muscle. MYH7 encodes the slow/beta-cardiac myosin heavy chain (MyHC), which is the main MyHC isoform in slow, oxidative, type 1 muscle fibers of skeletal muscle. It is also the major MyHC isoform of cardiac ventricles. Numerous missense mutations in the globular head of slow/beta-cardiac MyHC are associated with familial hypertrophic cardiomyopathy. We identified a missense mutation, Arg1845Trp, in the rod region of slow/beta-cardiac MyHC in patients with a skeletal myopathy from two different families. The myopathy was characterized by muscle weakness and wasting with onset in childhood and slow progression, but no overt cardiomyopathy. Slow, oxidative, type 1 muscle fibers showed large inclusions consisting of slow/beta-cardiac MyHC. The features were similar to a previously described entity: hyaline body myopathy. Our findings indicate that the mutated residue of slow/beta-cardiac MyHC is essential for the assembly of thick filaments in skeletal muscle. We propose the term myosin storage myopathy for this disease.
Place, publisher, year, edition, pages
John Wiley & Sons, 2003. Vol. 54, no 4, 494-500 p.
Research subject Medical sciences
IdentifiersURN: urn:nbn:se:his:diva-11984DOI: 10.1002/ana.10693ISI: 000185670600013PubMedID: 14520662ScopusID: 2-s2.0-0141535360OAI: oai:DiVA.org:his-11984DiVA: diva2:907138