Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

Lignende værker

• A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array
  af: Kiiski, Kirsi, et al.
  Udgivet: (2016)
• Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
  af: Laitila, Jenni M., et al.
  Udgivet: (2020)
• Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency
  af: Ottenheijm, Coen A.C., et al.
  Udgivet: (2009)
• Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
  af: Malfatti, Edoardo, et al.
  Udgivet: (2014)
• ALTERED MYOFILAMENT FUNCTION DEPRESSES FORCE GENERATION IN PATIENTS WITH NEBULIN-BASED NEMALINE MYOPATHY (NEM2)
  af: Ottenheijm, Coen A.C., et al.
  Udgivet: (2009)