Change search
ReferencesLink to record
Permanent link

Direct link
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7
Department of Pathology, Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden.ORCID iD: 0000-0001-8854-5213
Department of Integrative Medical Biology, Section for Anatomy, Umeå University, Umeå.
Department of Neurology, Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden.
Neuromuscular Unit, University Hospital, Linköping, Sweden.
Show others and affiliations
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
Abstract [en]

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.
National Category
Research subject
Medical sciences
URN: urn:nbn:se:his:diva-11984DOI: 10.1002/ana.10693ISI: 000185670600013PubMedID: 14520662ScopusID: 2-s2.0-0141535360OAI: oai:DiVA.org:his-11984DiVA: diva2:907138
Available from: 2016-02-26 Created: 2016-02-26 Last updated: 2016-03-08Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMedScopus

Search in DiVA

By author/editor
Tajsharghi, Homa
In the same journal
Annals of Neurology

Search outside of DiVA

GoogleGoogle Scholar

Altmetric score

Total: 368 hits
ReferencesLink to record
Permanent link

Direct link