Article
β-Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice.
Gene therapy - 1 Jan 2016
Pozsgai E R, Griffin D A, Heller K N, Mendell J R, Rodino-Klapac L R
Abstract excerpt
Limb-girdle muscular dystrophy type 2E (LGMD2E) results from mutations in the β-sarcoglycan (SGCB) gene causing loss of functional protein and concomitant loss of dystrophin-associated proteins. The disease phenotype is characterized by muscle weakness and wasting, and dystrophic features including muscle fiber necrosis, inflammation and fibrosis. The Sgcb-null mouse recapitulates the clinical phenotype with...
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