Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

Summary

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Authors: Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd

Journal title: Neurology Genetics

Journal publisher: American Accademy of Neurology

Published year: 2021

Published pages: e619

DOI identifier: 10.1212/nxg.0000000000000619

ISSN: 2376-7839