myophosphorylase normally initiates glycogen breakdown by removing 1,4-glucosyl groups from the glycogen molecule with release of glucose-1-phosphate
the majority patients with McAd have undetectable myophosphorylase activity and, thus, are unable to release glucose from glycogen in muscle
gene for myophosphorylase has been to chromosome 11q13
family history is positive in about half of the patients and consistent with autosomal recessive inheritance. However there does appear to be an autosomal dominant transmission in some families
Reference:
Bollig G et al. McArdle's disease and anaesthesia: Case reports. Review of potential problems and association with malignant hyperthermia. Acta Anaesthesiologica Scandinavica 2005;49 (8): 1077-1083.
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