Article
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Human mutation - 1 Sept 2009
Laing Nigel G, Dye Danielle E, Wallgren-Pettersson Carina, Richard Gabriele, Monnier Nicole, Lillis Suzanne, Winder Thomas L, Lochmüller Hanns, Graziano Claudio, Mitrani-Rosenbaum Stella, Twomey Darren, Sparrow John C, Beggs Alan H, Nowak Kristen J
Abstract excerpt
The ACTA1 gene encodes skeletal muscle alpha-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 known. In this article we describe 177 different disease-causing ACTA1 mutations, including 85 that have not...
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