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rs116987552(A;A)

From SNPedia
(Redirected from I5012656(A;A))
McArdle disease (also known as glycogen storage disease type V)
Is agenotype
ofrs116987552
GenePYGM
Chromosome11
Position64,759,751
mentionedby
Magnitude5
ReputeBad
Geno Mag Summary
(A;A) 5 McArdle disease (also known as glycogen storage disease type V)
(A;G) 3 Carrier of a McArdle disease mutation
(G;G) 0 common in clinvar

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Annual routine physical examination and review of diet.
  • Avoid repetitive episodes of muscle damage that may lead to rhabdomyolysis and fixed weakness.
  • Be aware risk for acute muscle damage from certain general anesthetics (usually muscle relaxants and inhaled anesthetics.
  • Statin-induced myopathy risk may be increased 12-20 fold for all carriers of a PYGM pathogenic mutation.


The full ClinGen Actionability report about Glycogen storage disease V can be found here.

Genetic counseling may be available to you through your health-care network. Additional information is available via our Find A Genetic Counselor webpage, located here.