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Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

Abstract:

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) fused with EGFP. Nemaline bodies were observed in multiple skeletal muscles, with ...

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Publication status:
Published

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Publisher copy:
10.1371/journal.pone.0028699

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Journal:
PloS one
Volume:
6
Issue:
12
Pages:
e28699
Publication date:
2011-01-01
DOI:
EISSN:
1932-6203
ISSN:
1932-6203
URN:
uuid:66a904fd-b15e-4cd1-9551-fc76a7a514a7
Source identifiers:
239923
Local pid:
pubs:239923

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