Myosin storage myopathy associated with a heterozygous missense mutation in MYH7
2003 (English)In: Annals of Neurology, ISSN 0364-5134, 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/▀-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/▀-cardiac MyHC are associated with familial hypertrophic cardiomyopathy. We identified a missense mutation, Arg1845Trp, in the rod region of slow/▀-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/▀-caxdiac MyHC. The features were similar to a previously described entity: hyaline body myopathy. Our findings indicate that the mutated residue of slow/▀-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
2003. Vol. 54, no 4, 494-500 p.
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:liu:diva-27816DOI: 10.1002/ana.10693Local ID: 12568OAI: oai:DiVA.org:liu-27816DiVA: diva2:248368