Sökning: LAR1:gu
> Högskolan i Skövde
> (2000-2004)
> Lindvall Björn >
Myosin storage myop...
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.
-
- Tajsharghi, Homa, 1968 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för laboratoriemedicin,Institute of Laboratory Medicine,Department of Pathology, Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden
-
- Thornell, Lars-Eric (författare)
- Umeå universitet,Anatomi,Department of Integrative Medical Biology, Section for Anatomy, Umeå University, Umeå
-
- Lindberg, Christopher (författare)
- Department of Neurology, Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden
-
visa fler...
-
- Lindvall, Björn, 1952- (författare)
- Östergötlands Läns Landsting,Linköpings universitet,Hälsouniversitetet,Institutionen för nervsystem och rörelseorgan,Neurologiska kliniken
-
- Henriksson, Karl-Gösta, 1928- (författare)
- Östergötlands Läns Landsting,Linköpings universitet,Hälsouniversitetet,Institutionen för nervsystem och rörelseorgan,Neurologiska kliniken
-
- Oldfors, Anders, 1951 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för laboratoriemedicin , Avdelningen för patologi,Institute of Laboratory Medicine, Dept of Pathology,Department of Pathology, Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden
-
visa färre...
-
(creator_code:org_t)
- 2003-09-25
- 2003
- Engelska.
-
Ingår i: Annals of neurology. - : Wiley. - 0364-5134 .- 1531-8249. ; 54:4, s. 494-500
- Relaterad länk:
-
https://gup.ub.gu.se...
-
visa fler...
-
https://doi.org/10.1...
-
https://urn.kb.se/re...
-
https://urn.kb.se/re...
-
https://urn.kb.se/re...
-
visa färre...
Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- 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)
Nyckelord
- 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
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas