Genomic coordinate (human 11:67,746,389 PYGM).
Cytoband (human 11q13.1 PYGM).
Here I 🎁 present: “McArdle Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PYGM) icd10=E74.04
Glycogen storage disease type-V, known as McArdle’s disease is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. Its incidence is reported as one in 100,000, roughly the same as glycogen storage disease type-I.
The disease was first reported in 1951 by British physician Brian McArdle of Guy’s Hospital, London.
There is evidence that McArdle Syndrome is caused by mutation in the (PYGM) gene encoded on genomic coordinate 11:67,746,389 and cytoband 11q13.1 in humans.
The PYGM gene encodes the muscle isoform of glycogen phosphorylase (EC 2.4.1.1), which catalyzes and regulates the breakdown of glycogen to glucose-1-phosphate during glycogenolysis. This metabolic pathway is necessary for the generation of ATP during physical activity.
