Article
Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society - 1 Nov 2008
Yamamoto Lydia U, Velloso Fernando J, Lima Bruno L, Fogaça Luciana L Q, de Paula Flávia, Vieira Natássia M, Zatz Mayana, Vainzof Mariz
Abstract excerpt
Fukutin-related protein (FKRP) is a protein involved in the glycosylation of cell surface molecules. Pathogenic mutations in the FKRP gene cause both the more severe congenital muscular dystrophy Type 1C and the milder Limb-Girdle Type 2I form (LGMD2I). Here we report muscle histological alterations and the analysis of 11 muscle proteins: dystrophin, four sarcoglycans, calpain 3, dysferlin, telethonin, collagen...
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