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A novel STIM1 mutation at p.340 causes tubular aggregate myopathy with miosis without additional features of Stormorken syndrome

Lookup NU author(s): Dr Lizzie Harris, Emerita Professor Katherine Bushby, Professor Hanns Lochmuller, Professor Volker StraubORCiD, Dr Rita Barresi


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Publication metadata

Author(s): Harris E, Hudson J, Marsh J, Bettolo CM, Neri M, Ferlini A, Bushby K, Lochmuller H, Straub V, Barresi R

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

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

Year of Conference: 2015

Pages: S289-S289

Print publication date: 01/10/2015

Online publication date: 10/09/2015

Publisher: Pergamon Press


DOI: 10.1016/j.nmd.2015.06.369

Series Title: Neuromuscular Disorders