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Lein Dofash

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An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene

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By Joshua Clayton, Mridul Johari, Rhonda Taylor, Lein Dofash
| Wiley Online Library Verified
1. Introduction Skeletal muscle alpha-actin (ACTA1) is a critical protein required for skeletal muscle structure and function. Pathogenic variants in ACTA1 were first described in 1999 [1]. As of the last review in 2009, there were 177 reported pathogenic/likely pathogenic (P/LP) ACTA1 variants [2]. Herein, we update on the now over 600 reported ACTA1 variants, including 343 reported P/LP variants—an average of 11.9 new variants per year over the last 14 years.
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