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Absence of functional messenger RNA for glycogen phosphorylase in the muscle of two patients with McArdle's disease

(1) Two unrelated cases of McArdle's disease (glycogen storage disease type V, deficiency in muscle‐type glycogen phosphorylase, EC.2.4.1.1) with no detectable inactive protein, and two heterozygous relatives of one patient, have been investigated for the presence or absence of functional messenger RNA. Methods were developed and scaled down to be compatible with clinical‐size biopsies.