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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

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


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Publication metadata

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)

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

Year of Conference: 2016

Pages: S89-S89

Online publication date: 09/09/2016

Acceptance date: 02/04/2016

Print publication date: 01/10/2016

: 0960-8966

: 1873-2364

Publisher: Elsevier


DOI: 10.1016/j.nmd.2016.06.018

Series Title: Neuromuscular Disorders


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