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

  1. Lookup NU author(s)
  2. Dr Marta Bertoli
  3. Dr Ana Topf
  4. Dr Lizzie Harris
  5. Dr Steven Laval
  6. Dr Anna Sarkozy
  7. Professor Hanns Lochmuller
  8. Dr Sally Lynch
  9. Professor Volker Straub
Author(s)Bertoli M, Topf A, Harris E, Laval S, Sarkozy A, Lochmuller H, Lynch S, Straub V
Editor(s)
Publication type Conference Proceedings (inc. Abstract)
Conference Name20th International Congress of the World Muscle Society
Conference LocationBrighton, UK
Year of Conference2015
Source Publication Date
Volume25
PagesS276-S277
Series TitleNeuromuscular Disorders
0960-8966
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
PublisherElsevier
URLhttp://dx.doi.org/10.1016/j.nmd.2015.06.327
DOI10.1016/j.nmd.2015.06.327
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