Article
ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.
Neuropathology and applied neurobiology - 1 Apr 2026
Caramizaru Alexandru, Onnée Marion, Nikitin Sergey, Dobrescu Amelia, Severa Gianmarco, Murtazina Aysylu, Urtizberea Andoni, Lefaucheur Jean-Pascal, Carlier Robert-Yves, Metay Corinne, Malfatti Edoardo
Abstract excerpt
AIMS: Actinopathies are myopathies associated with pathogenic variants in ACTA1, a gene encoding the skeletal alpha-actin protein. Although patients most frequently have a severe congenital myopathy, an important clinical and myopathological variability has been described. Recently, a scapuloperoneal myopathy phenotype associated with ACTA1 has been reported. Here, we present a Russian woman with a late-onset,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.