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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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Authors


Ravenscroft, G More by this author
Jackaman, C More by this author
McNamara, E More by this author
Squire, SE More by this author
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Journal:
PLoS ONE
Volume:
6
Issue:
12
Publication date:
2011-12-09
DOI:
EISSN:
1932-6203
URN:
uuid:5a5a979f-6fa2-4f57-918b-4cd82c321f27
Source identifiers:
221474
Local pid:
pubs:221474
Language:
English

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