An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (phosphofructokinase-1, muscle type) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.


Leave a message about 'glycogen storage disease type vii'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.