Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
✍ Scribed by Laing, Nigel G.; Nowak, Kristen J.; Wattanasirichaigoon, Duangrurdee; Goebel, Hans H.; Wilce, Matthew; Pelin, Katarina; Donner, Kati; Jacob, Rebecca L.; Hübner, Christoph; Oexle, Konrad; Anderson, Janice R.; Verity, Christopher M.; North, Kathryn N.; Iannaccone, Susan T.; Müller, Clemens R.; Nürnberg, Peter; Muntoni, Francesco; Sewry, Caroline; Hughes, Imelda; Sutphen, Rebecca; Lacson, Atilano G.; Swoboda, Kathryn J.; Vigneron, Jaqueline; Wallgren-Pettersson, Carina; Beggs, Alan H.
- Book ID
- 109515828
- Publisher
- Nature Publishing Group
- Year
- 1999
- Tongue
- English
- Weight
- 538 KB
- Volume
- 23
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/13837
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The ACTA1 gene encodes skeletal muscle a-actin, which is the predominant actin isoform in the sarcomeric thin filaments of adult skeletal muscle, and essential, along with myosin, for muscle contraction. ACTA1 disease-causing mutations were first described in 1999, when a total of 15 mutations were
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