Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

  • Jenni M. Laitila (Creator)
  • Elyshia Mcnamara (Contributor)
  • Catherine D. Wingate (Creator)
  • Hayley Goullee (Creator)
  • Jacob A. Ross (Creator)
  • Rhonda L. Taylor (Creator)
  • Robbert van der Pijl (Contributor)
  • Lisa M. Griffiths (Creator)
  • Rachel Harries (Creator)
  • Gianina Ravenscroft (Creator)
  • Joshua S. Clayton (Creator)
  • Caroline A. Sewry (Creator)
  • Michael W. Lawlor (Creator)
  • Coen A C Ottenheijm (Creator)
  • Anthony J. Bakker (Creator)
  • Julien Ochala (Creator)
  • Nigel G. Laing (Creator)
  • Carina Wallgren-Pettersson (Creator)
  • Katarina Pelin (Creator)
  • Kristen J. Nowak (Creator)
  • Kristen Nowak (Creator)

Dataset

Description

Abstract Nemaline myopathy (NM) caused by mutations in the gene encoding nebulin (NEB) accounts for at least 50% of all NM cases worldwide, representing a significant disease burden. Most NEB-NM patients have autosomal recessive disease due to a compoun...
Date made available2020
Publisherfigshare

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