ACTA1 and myopathy: An expanded Next Generation Sequencing analysis targeting congenital myopathies genes revealed the presence of a novel heterozygous c.965 T > A p. (Leu322Gln) variant in the <i>ACTA1</i> gene, which encodes the skeletal muscle alpha-actin.<h4>Conclusion</h4>Our case expands the repertoire of molecular and pathological features observed in actinopathies.