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Article

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

Human mutation - 1 Jan 2024

Clayton Joshua S, Johari Mridul, Taylor Rhonda L, Dofash Lein, Allan Georgina, Monahan Gavin, Houweling Peter J, Ravenscroft Gianina, Laing Nigel G

Abstract excerpt

The ACTA1 gene encodes skeletal muscle alpha-actin, which forms the core of the sarcomeric thin filament in adult skeletal muscle. ACTA1 represents one of six highly conserved actin proteins that have all been associated with human disease. The first 15 pathogenic variants in ACTA1 were reported in 1999, which expanded to 177 in 2009. Here, we update on the now 607 total variants reported in LOVD, HGMD, and...

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Identifiers

PMID: 40225930
DOI: 10.1155/2024/6496088
PMCID: PMC11918651

Genes

ACTA1

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