Litcius/Paper detail

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Sandra Donkervoort, Carl Elias Kutzner, Ying Hu, Xavière Lornage, John Rendu, Tanya Stojkovic, Jonathan Baets, Sarah Neuhaus, Jantima Tanboon, Reza Maroofian, Véronique Bolduc, Magdalena Mroczek, Stefan Conijn, Nancy L. Kuntz, Ana Töpf, Soledad Monges, Fabiana Lubieniecki, Riley M. McCarty, Katherine R. Chao, Serena Governali, Johann Böhm, Kanokwan Boonyapisit, Edoardo Malfatti, Tumtip Sangruchi, Iren Horkayne‐Szakaly, Carola Hedberg‐Oldfors, Stéphanie Efthymiou, S. Noguchi, Sarah Djeddi, Aritoshi Iida, Gabriella Di Rosa, Chiara Fiorillo, Vincenzo Salpietro, Niklas Darín, Julien Fauré, Henry Houlden, Anders Oldfors, Ichizo Nishino, Willem De Ridder, Volker Straub, Wojciech Pokrzywa, Jocelyn Laporte, A. Reghan Foley, Norma B. Romero, Coen Ottenheijm, Thorsten Hoppe, Carsten G. Bönnemann

2020The American Journal of Human Genetics46 citationsDOIOpen Access PDF

Topics & Concepts

EccentricMyopathyMyosinBiologyGeneticsCell biologyPhysicsQuantum mechanicsCardiomyopathy and Myosin StudiesMuscle Physiology and DisordersNuclear Structure and Function