Defects in the genes encoding laforin and malin have been implicated in the pathogenesis of progressive myoclonus epilepsy, also known as Lafora disease, but the mechanism by which they cause the ...

McArdle disease (also known as glycogen storage disease type V) is a pure myopathy caused by an inherited deficit of myophosphorylase, the skeletal muscle isoform of the enzyme glycogen phosphorylase.