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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 21-01-2009
Symbol PYGM
Location 11q13.1
Name glycogen storage disease V
Other name(s)
  • McArdle disease
  • myophosphorylase deficiency
  • Corresponding gene PYGM
    Other symbol(s) GSD5
    Main clinical features
  • begin in young adulthood with exercise intolerance and muscle cramps
  • transient myoglobinuria may occur after exercise, due to rhabdomyolysis
  • persistent and progressive muscle weakness and atrophy with fatty replacement
  • relatively benign disorder, except for possible renal failure as a complication of myoglobinuria
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name phosphorylase, glycogen, muscle (PYGM), myophosphorulase