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GENATLAS PHENOTYPE

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

Remark(s)

preventing excessive extracellular Ca2+ influx could be a potential therapeutic approach for TBAM (PMID: 23332920))