Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

  1. Lookup NU author(s)
  2. Dr Lizzie Harris
  3. Dr Rita Barresi
  4. Dr Chiara Marini Bettolo
  5. Dr Ana Topf
  6. Professor Volker Straub
  7. Professor Hanns Lochmuller
Author(s)Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmuller H, Brais B, Laporte J, Tetreault M
Publication type Article
JournalBrain
Year2017
Volume140
Issue1
Pages37-48
ISSN (print)0006-8950
ISSN (electronic)1460-2156
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PublisherOxford University Press
URLhttp://dx.doi.org/10.1093/brain/aww257
DOI10.1093/brain/aww257
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