Journal article

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

E Oates, K Yau, S Donkervoort, L Swanson, S Brammah, A Topf, I Richard, A Ferreiro, E Hoffman, K Bushby, V Straub, B Udd, M Lek, D MacArthur, H Granzier, A Beggs, C Bonnemann, K North, M Davis, N Laing

Neuromuscular Disorders | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2016