Article
Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies.
Brain : a journal of neurology - 1 Apr 2011
Ravenscroft Gianina, Jackaman Connie, Bringans Scott, Papadimitriou John M, Griffiths Lisa M, McNamara Elyshia, Bakker Anthony J, Davies Kay E, Laing Nigel G, Nowak Kristen J
Abstract excerpt
Mutations in the skeletal muscle α-actin gene (ACTA1) cause a range of pathologically defined congenital myopathies. Most patients have dominant mutations and experience severe skeletal muscle weakness, dying within one year of birth. To determine mutant ACTA1 pathobiology, transgenic mice expressing ACTA1(D286G) were created. These Tg(ACTA1)(D286G) mice were less active than wild-type individuals. Their skeletal...
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