McArdle disease is a metabolic disorder caused by pathogenic mutations in the PYGM gene. Timely diagnosis can sometimes be difficult with direct genomic analysis, which requires additional studies of ...
Biallelic mutations in the PYGM gene, which encodes for glycogen phosphorylase, cause McArdle disease, with a few cases documented to have hereditary macular dystrophies (HMDs) as an association. In ...
McArdle's disease, also known as Glycogen Storage Disease Type V, or GSD5, is a congenital disorder of muscle metabolism. It occurs when the body loses its ability to break down glycogen leading to ...
McArdle disease is one of the most common glycogen storage disorders. Although the exact prevalence is not known, it has been estimated to be 1 in 100,000 patients in the United States. More than 100 ...
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