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: 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.
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2011
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Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3235150/
https://ncbi.nlm.nih.gov/pubmed/22174871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0028699
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