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last update : 14-09-2013
Symbol NEM8
Location 3p22.1
Name nemaline myopathy 8
Corresponding gene KLHL40
Main clinical features
  • severe muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth
  • skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s) . missense mutations occurred mostly in conserved functional domains within KLHL40, and they were predicted to destabilize the intramolecular interactions and thus impair protein stability (PMID: 23746549))