[Overview of cytoskeletal actin mutations associated with rare diseases].

Abstract excerpt

Dynamics of the actin cytoskeleton play an important role in many physiological processes. Mutations in actin and actin-binding proteins cover a wide spectrum of diseases, called actinopathies. Of the six actin isoforms, the cytoskeletal β- and γ-actin isoforms differ from each other by only four amino acids. This results in overlapping and isoform-specific functions. Mutations in the ACTB and ACTG1 genes have...

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