Molecular heterogeneity in McArdle's disease.

Abstract excerpt

Biopsies were taken from a group of eleven patients with McArdle's disease, a congenital deficiency in muscle glycogen phosphorylase. The biopsies were screened by Western and Northern blotting for phosphorylase protein, phosphorylase-bound pyridoxal-5'-phosphate (the cofactor of the enzyme) and for phosphorylase mRNA. Of the eleven patients, three expressed phosphorylase mRNA at near normal levels and at the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Antibodies, Monoclonal
• Share to Blotting, Northern
• Share to Blotting, Western