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GENATLAS PHENOTYPE
last update : 23-11-2013
Symbol NEM2
Location 2q23.3
Name nemaline myopathy 2
Corresponding gene NEB
Main clinical features
  • characterized by infantile onset of a slowly progressive weakness of the facial, bulbar, neck flexor, arthrogryposis, multiple pterygia, respiratory and proximal limb muscles with a later distal involvement and a fatal course in the most severe cases
  • associated with the presence of nemaline bodies in the muscle fibers
  • also childhood onset distal nemaline myopathy , with additional cores on muscle biopsy (PMID: 23443021))
    • Genetic determination autosomal recessive
    Prevalence 50 p100 of all NEM (Ottenheijm 2009)
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name nebulin (NEB)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein mostly frequent
    frameshift   truncated protein mostly frequent
    Remark(s) . deletion of nebulin exon 55 dysregulates thin filament length control and causes muscle fiber weakness in patients with NEM2 (Ottenheijm 2009)