Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

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Authors: Töpf, Ana Cox, Dan Zaharieva, Irina T Di Leo, Valeria Sarparanta, Jaakko Jonson, Per Harald Sealy, Ian M Smolnikov, Andrei White, Richard J Vihola, Anna Savarese, Marco Merteroglu, Munise Wali, Neha Laricchia, Kristen M Venturini, Cristina Vroling, Bas Stenton, Sarah L Cummings, Beryl B Harris, Elizabeth Marini-Bettolo, Chiara Diaz-Manera, Jordi Henderson, Matt Barresi, Rita Duff, Jennifer Englan

Journal title: Nature genetics

Journal number: Volume 56, Issue 3

Journal publisher: Nature Publishing Group

Published year: 2024

Published pages: 395-4

DOI identifier: 10.1038/s41588-023-01651-0

ISSN: 1061-4036