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

  1. Lookup NU author(s)
  2. Dr Ana Topf
  3. Professor Katherine Bushby
  4. Professor Volker Straub
Author(s)Oates E, Yau K, Donkervoort S, Swanson L, Brammah S, Topf A, Richard I, Ferreiro A, Hoffman E, Bushby K, Straub V, Udd B, Lek M, MacArthur D, Granzier H, Beggs A, Bonnemann C, North K, Davis M, Laing N
Editor(s)
Publication type Conference Proceedings (inc. Abstract)
Conference Name21st International Congress of the World Muscle Society
Conference LocationGranada
Year of Conference2016
Source Publication Date
Volume26
PagesS89-S89
Series TitleNeuromuscular Disorders
0960-8966
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PublisherElsevier
URLhttp://dx.doi.org/10.1016/j.nmd.2016.06.018
DOI10.1016/j.nmd.2016.06.018
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