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Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.
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- Tajsharghi, Homa, 1968 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för laboratoriemedicin,Institute of Laboratory Medicine,Department of Pathology, Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden
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- Thornell, Lars-Eric (author)
- Umeå universitet,Anatomi,Department of Integrative Medical Biology, Section for Anatomy, Umeå University, Umeå
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- Lindberg, Christopher (author)
- Department of Neurology, Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden
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- (creator_code:org_t)
- 2003-09-25
- 2003
- English.
- In: Annals of neurology. - : Wiley. - 0364-5134 .- 1531-8249. ; 54:4, s. 494-500
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- Adenosine Triphosphatases
- metabolism
- Aged
- Arginine
- genetics
- Blotting
- Western
- DNA Mutational Analysis
- Family Health
- Female
- Heterozygote
- Humans
- Immunohistochemistry
- Male
- Microscopy
- Electron
- Molecular Motor Proteins
- Molecular Sequence Data
- Muscle Fibers
- Slow-Twitch
- metabolism
- ultrastructure
- Muscular Diseases
- genetics
- metabolism
- pathology
- Mutation
- Missense
- Myosin Heavy Chains
- genetics
- metabolism
- ultrastructure
- Protein Isoforms
- Sequence Alignment
- Staining and Labeling
- Tryptophan
- genetics
- Medical sciences
- MEDICINE
Publication and Content Type
- ref (subject category)
- art (subject category)
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