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

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

doi:10.1016/j.nmd.2016.06.018

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

Lookup NU author(s): Dr Ana Topf ORCiD, Emerita Professor Katherine Bushby, Professor Volker Straub ORCiD

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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

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: 21st International Congress of the World Muscle Society

Year of Conference: 2016

Pages: S89-S89

Print publication date: 01/10/2016

Online publication date: 09/09/2016

Acceptance date: 02/04/2016

ISSN: 1873-2364

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/j.nmd.2016.06.018

DOI: 10.1016/j.nmd.2016.06.018

Series Title: Neuromuscular Disorders

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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

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