Molecular heterogeneity in McArdle's disease.

doi:10.1016/0925-4439(90)90008-d

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Article

Molecular heterogeneity in McArdle's disease.

Biochimica et biophysica acta - 14 Nov 1990

McConchie S M, Coakley J, Edwards R H, Beynon R J

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...

Topics

Antibodies, Monoclonal
Blotting, Northern
Blotting, Western
Cross Reactions
Genetic Variation
Glycogen Storage Disease Type V
Humans
Muscle Proteins
Phosphorylases
RNA, Messenger

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