Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
Marco SavareseJohanna PalmioJuan José PozaJan WeinbergMontse OliveAna Maria CoboAnna ViholaPer Harald JonsonJaakko SarparantaFederico García-BragadoJon Andoni UrtizbereaPeter HackmanBjarne UddPublished in: Annals of neurology (2019)
ACTN2 encodes for alpha actinin2, which is highly expressed in the sarcomeric Z-disk with a major structural and functional role. Actininopathy is thus a new genetically determined distal myopathy. ANN NEUROL 2019;85:899-906.