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
Titel:
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
Auteur:
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.