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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-12-2013
Symbol ALS19
Location 2q34
Name amyotrophic lateral sclerosis 19
Corresponding gene ERBB4
Main clinical features
  • relatively slowly progressive upper and lower motor neuron involvement without cognitive impairment
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
  • mutations led to a reduced autophosphorylation of ErbB4 upon neuregulin-1 (NRG-1) stimulation (PMID: 24119685))