Till sidans topp

Sidansvarig: Webbredaktion
Sidan uppdaterades: 2012-09-11 15:12

Tipsa en vän
Utskriftsversion

Myosin storage myopathy a… - Göteborgs universitet Till startsida
Webbkarta
Till innehåll Läs mer om hur kakor används på gu.se

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

Artikel i vetenskaplig tidskrift
Författare Homa Tajsharghi
Lars-Eric Thornell
Christopher Lindberg
Björn Lindvall
Karl-Gösta Henriksson
Anders Oldfors
Publicerad i Annals of neurology
Volym 54
Nummer/häfte 4
Sidor 494-500
ISSN 0364-5134
Publiceringsår 2003
Publicerad vid Institutionen för laboratoriemedicin
Institutionen för laboratoriemedicin , Avdelningen för patologi
Sidor 494-500
Språk en
Länkar dx.doi.org/10.1002/ana.10693
Ämnesord 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
Ämneskategorier Cell- och molekylärbiologi

Sammanfattning

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.

Sidansvarig: Webbredaktion|Sidan uppdaterades: 2012-09-11
Dela:

På Göteborgs universitet använder vi kakor (cookies) för att webbplatsen ska fungera på ett bra sätt för dig. Genom att surfa vidare godkänner du att vi använder kakor.  Vad är kakor?