Article
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Human mutation - 1 Jul 2015
Nogales-Gadea Gisela, Brull Astrid, Santalla Alfredo, Andreu Antoni L, Arenas Joaquin, Martín Miguel A, Lucia Alejandro, de Luna Noemi, Pinós Tomàs
Abstract excerpt
McArdle disease is an autosomal-recessive disorder caused by inherited deficiency of the muscle isoform of glycogen phosphorylase (or "myophosphorylase"), which catalyzes the first step of glycogen catabolism, releasing glucose-1-phosphate from glycogen deposits. As a result, muscle metabolism is impaired, leading to different degrees of exercise intolerance. Patients range from asymptomatic to severely affected,...
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