Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies.
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 expressin...
Main Authors: | Ravenscroft, G, Jackaman, C, Bringans, S, Papadimitriou, J, Griffiths, L, McNamara, E, Bakker, A, Davies, K, Laing, N, Nowak, K |
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Format: | Journal article |
Language: | English |
Published: |
2011
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