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GENATLAS PHENOTYPE

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

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