Article
Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.
PloS one - 1 Jan 2011
Ravenscroft Gianina, Jackaman Connie, Sewry Caroline A, McNamara Elyshia, Squire Sarah E, Potter Allyson C, Papadimitriou John, Griffiths Lisa M, Bakker Anthony J, Davies Kay E, Laing Nigel G, Nowak Kristen J
Abstract excerpt
Mutations in the skeletal muscle α-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 generated expressing an autosomal dominant mutant (D286G) of ACTA1 (identified in a severe nemaline myopathy patient)...
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