ACTN2 and distal myopathy: In 2019, we described a distal myopathy, without facial weakness, caused by ACTN2 missense variants in 4 families.5 De novo ACTN2 variants were identified in 2 patients with congenital myopathy with structured cores, showing mild facial weakness.6 Missense variants have also been associated with cardiomyopathies7 (eFigure3c, links.lww.com/NXG/A444).