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References OMIM Gene GeneReviews HGMD HGNC
last update : 16-03-2013
Symbol TBAM
Location 11p15.4
Name tubular-aggregate myopathy
Corresponding gene STIM1
Main clinical features
  • characterized by slowly progressive muscle weakness
  • CK levels were strongly elevated in affected individuals from all families, and electrophysiological analyses revealed a myopathic pattern
  • regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
  • preventing excessive extracellular Ca2+ influx could be a potential therapeutic approach for TBAM (PMID: 23332920))