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Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores |
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| Authors: | Sambuughin Nyamkhishig Yau Kyle S Olivé Montse Duff Rachael M Bayarsaikhan Munkhuu Lu Shajia Gonzalez-Mera Laura Sivadorai Padma Nowak Kristen J Ravenscroft Gianina Mastaglia Frank L North Kathryn N Ilkovski Biljana Kremer Hannie Lammens Martin van Engelen Baziel G M Fabian Vicki Lamont Phillipa Davis Mark R Laing Nigel G Goldfarb Lev G |
| Institution: | 1 Department of Anesthesiology, Uniformed Services University, Bethesda, MD 20814, USA 2 Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, QEII Medical Centre, Western Australia 6009, Australia 3 Institut de Neuropatologia, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge and CIBERNED, Feixa Llarga s/n, Hospitalet de Llobregat, Barcelona 08907, Spain 4 National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA 5 Department of Anatomical Pathology, Royal Perth Hospital, Perth, Western Australia 6000, Australia 6 Centre for Neuromuscular and Neurological Disorders, University of Western Australia 6009, Australia 7 Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead 2145, Australia 8 Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen 6500,The Netherlands 9 Division of Neurosciences, Royal Perth Hospital, Perth, Western Australia 6000, Australia 10 National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA |
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