Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Nyamkhishig Sambuughin(Uniformed Services University of the Health Sciences), Lev G. Goldfarb(University Hospital of Basel), Frank Mastaglia(The University of Western Australia), Montse Olivé(Universitat Autònoma de Barcelona), Hannie Kremer(Radboud University Nijmegen), Kathryn N. North(The University of Melbourne), Nigel G. Laing(Harry Perkins Institute of Medical Research), Mark R. Davis(Pathwest Laboratory Medicine), Rachael M. Duff(The University of Western Australia), Kyle S. Yau(The University of Western Australia), Padma Sivadorai(Royal Perth Hospital), Baziel G.M. van Engelen(Radboud University Nijmegen), Laura González(Bellvitge University Hospital), Munkhuu Bayarsaikhan(Uniformed Services University of the Health Sciences), Gianina Ravenscroft(Harry Perkins Institute of Medical Research), Martin Lammens(Radboud University Nijmegen), Shajia Lu(National Institute of Arthritis and Musculoskeletal and Skin Diseases), Vicki Fabian(Royal Perth Hospital), Phillipa J. Lamont(Royal Perth Hospital), Biljana Ilkovski(Children's Hospital at Westmead)
The American Journal of Human Genetics
November 26, 2010
Cited by 159


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