Genes and exercise intolerance: Insights from McArdle disease.
Laizhou, China. In Physiol Genomics, Nov 2015
UNASSIGNED: McArdle disease (glycogen storage disease type V) is caused by inherited deficiency of a key enzyme in muscle metabolism, the skeletal-muscle specific isoform of glycogen phosphorylase, 'myophosphorylase', which is encoded by the PYGM gene.
McArdle disease: 2 case reports.
León, Spain. In Reumatol Clin, Aug 2015
There was null activity of myophosphorylase in muscle biopsy of both cases, so a diagnosis of McArdle disease was made.