Actin Nemaline Myopathy Mouse Reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression

Actin Nemaline Myopathy Mouse Reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression

Mutations in the skeletal muscle a-actin gene (ACTA1) cause congenital myopathies including nemaline myopathy, actin aggregate myopathy and rod-core disease. The majority of patients with ACTA1 mutations have severe hypotonia and do not survive beyond the age of one. A transgenic mouse model was gen...

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Bibliographic Details
Main Authors: Ravenscroft, G., Jackaman, Connie, Sewry, C., Mcnamara, E., Squire, S., Potter, A., Papadimitriou, J., Griffiths, L., Bakker, A., Davies, K., Laing, N., Nowak, K.
Format: Journal Article
Published: Public Library of Science 2011
Online Access:http://hdl.handle.net/20.500.11937/49290

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