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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-05-2016
Symbol VMCQA
Location 1q23.2
Name vacuolar myopathy with CASQ1 aggregates
Corresponding gene CASQ1
Main clinical features
  • adult onset of muscle cramping and weakness, myalgia, proximal muscle weakness affecting the upper and/or lower limbs, and easy fatigability, as well as increased levels of serum creatine kinase, this disorder is not progressive, and some patients may be asymptomatic
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease