Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement
Emily C. Oates(The University of Sydney), Nigel G. Laing(Harry Perkins Institute of Medical Research), Kathryn N. North(The University of Melbourne), Monkol Lek(Massachusetts General Hospital), Volker Straub(Newcastle upon Tyne Hospitals NHS Foundation Trust), Sandra Donkervoort(Government of the United States of America), Henk Granzier(University of Arizona), Kyle S. Yau(The University of Western Australia), Alan H. Beggs(Boston Children's Hospital), Carsten G. Bönnemann(National Institute of Neurological Disorders and Stroke), I. Richard, Ana Töpf(NIHR Newcastle Biomedical Research Centre), Bjarne Udd(Folkhälsans Forskningscentrum), Eric P. Hoffman(Binghamton University), Michael Davis(Royal Perth Hospital), Ana Ferreiro(Centre National de la Recherche Scientifique), Kate Bushby(Muscular Dystrophy UK), Daniel G. MacArthur(Garvan Institute of Medical Research), Lindsay C. Swanson(Boston Children's Hospital), Susan Brammah(Concord Repatriation General Hospital)
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