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A founder mutation in the titin gene is a common cause of myofibrillar myopathy with early respiratory failure

Lookup NU author(s): Dr Gerald Pfeffer, Dr Rita Barresi, Dr Ian Wilson, Dr Helen GriffinORCiD, Dr Hannah Elliott, Professor Rita HorvathORCiD, Professor Volker StraubORCiD, Emerita Professor Katherine Bushby, Professor Hanns Lochmuller, Professor Patrick Chinnery, Dr Anna Sarkozy


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Publication metadata

Author(s): Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer J, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HCA, Horvath R, Straub V, Bushby K, Lochmuller H, Chinnery P, Sarkozy A

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: 18th International Congress of the World Muscle Society

Year of Conference: 2013

Pages: 820-820

ISSN: 1873-2364

Publisher: Elsevier


DOI: 10.1016/j.nmd.2013.06.632

Series Title: Neuromuscular Disorders