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GENATLAS PHENOTYPE
last update : 31/08/2006
Symbol PGAM2
Location 7p13
Name myopathy, exercise-related
Other name(s) phosphoglycerate mutase, muscle, deficiency of
Corresponding gene PGAM2
Genetic determination autosomal recessive
Function/system disorder neuromuscular
Type disease
Gene product
Name phosphoglycerate mutase 2 (muscle)
Remark(s)