Rare <i>ACTN2</i> Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation
Johanna Ranta‐aho(University of Helsinki), Marco Savarese(Folkhälsans Forskningscentrum), Mario Sabatelli(Barrow Neurological Institute), Michael K. Hehir(University of Vermont), Lynn Pais(MACOM (United States)), Melanie O’Leary(MACOM (United States)), Vijay Ganesh(Stanford University), Johanna Palmio, J. Sarparanta(University of Helsinki), Giorgio Tasca(Agostino Gemelli University Polyclinic), Inès Harzallah(Centre Hospitalier Universitaire de Saint-Étienne), Kevin J. Felice(Hospital for Special Care), Per Harald Jonson(VTT Technical Research Centre of Finland), Bjarne Udd(Folkhälsans Forskningscentrum), Christina Austin‐Tse(Broad Institute), S. H. Subramony(University of Florida), Cédric Yvorel(Hôpital Nord), Heidi L. Rehm(Unknown), Qian Wu(University of Connecticut), Renaud Touraine(Centre Hospitalier Universitaire de Saint-Étienne)
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