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A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism

Lookup NU author(s): Dr Marta Bertoli, Dr Ana TopfORCiD, Dr Lizzie Harris, Dr Steven Laval, Dr Anna Sarkozy, Professor Hanns Lochmuller, Dr Sally Lynch, Professor Volker StraubORCiD


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Publication metadata

Author(s): Bertoli M, Topf A, Harris E, Laval S, Sarkozy A, Lochmuller H, Lynch S, Straub V

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: 20th International Congress of the World Muscle Society

Year of Conference: 2015

Pages: S276-S277

Print publication date: 01/10/2015

Publisher: Elsevier


DOI: 10.1016/j.nmd.2015.06.327

Series Title: Neuromuscular Disorders