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 Udd

Published 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.

Keyphrases

muscular dystrophy
duchenne muscular dystrophy
hypertrophic cardiomyopathy
minimally invasive
neural network
atrial fibrillation
early onset
myasthenia gravis