Toggle Main Menu Toggle Search

Open Access padlockePrints

The Newcastle University research output collection, currently available on ePrints, will shortly be moving to a new open repository platform, Figshare. To prepare for the data migration we have paused adding new content to ePrints, and will resume once the new repository is launched. During this time you will continue to have access to ePrints (but no new content will appear). We will share updates here when available.

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

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

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

URL: http://dx.doi.org/10.1016/j.nmd.2013.06.632

DOI: 10.1016/j.nmd.2013.06.632

Series Title: Neuromuscular Disorders

Share