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 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 gen...

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Main Authors: Gianina Ravenscroft, Connie Jackaman, Caroline A Sewry, Elyshia McNamara, Sarah E Squire, Allyson C Potter, John Papadimitriou, Lisa M Griffiths, Anthony J Bakker, Kay E Davies, Nigel G Laing, Kristen J Nowak
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0028699&type=printable
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https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0028699&type=printable

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