Article
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
American journal of human genetics - 3 Dec 2020
Donkervoort Sandra, Kutzner Carl E, Hu Ying, Lornage Xavière, Rendu John, Stojkovic Tanya, Baets Jonathan, Neuhaus Sarah B, Tanboon Jantima, Maroofian Reza, Bolduc Véronique, Mroczek Magdalena, Conijn Stefan, Kuntz Nancy L, Töpf Ana, Monges Soledad, Lubieniecki Fabiana, McCarty Riley M, Chao Katherine R, Governali Serena, Böhm Johann, Boonyapisit Kanokwan, Malfatti Edoardo, Sangruchi Tumtip, Horkayne-Szakaly Iren, Hedberg-Oldfors Carola, Efthymiou Stephanie, Noguchi Satoru, Djeddi Sarah, Iida Aritoshi, di Rosa Gabriella, Fiorillo Chiara, Salpietro Vincenzo, Darin Niklas, Fauré Julien, Houlden Henry, Oldfors Anders, Nishino Ichizo, de Ridder Willem, Straub Volker, Pokrzywa Wojciech, Laporte Jocelyn, Foley A Reghan, Romero Norma B, Ottenheijm Coen, Hoppe Thorsten, Bönnemann Carsten G
Abstract excerpt
The myosin-directed chaperone UNC-45B is essential for sarcomeric organization and muscle function from Caenorhabditis elegans to humans. The pathological impact of UNC-45B in muscle disease remained elusive. We report ten individuals with bi-allelic variants in UNC45B who exhibit childhood-onset progressive muscle weakness. We identified a common UNC45B variant that acts as a complex hypomorph splice variant....
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