TY - JOUR 
A1 - Nogales-Gadea, Gisela
AU - Brull, Astrid
AU - Santalla Hernández, Alfredo
AU - Andreu, Antoni L.
AU - Martín Casanueva, Miguel Ángel
AU - Arenas, Joaquín
AU - Lucía Mulas, Alejandro
AU - Luna, Noemí de
AU - Pinós, Tomás
T1 - Mcardle disease: Update of reported mutations and polymorphisms in the Pygm gene
Y1 - 2015
SN - 10597794

UR - http://hdl.handle.net/11268/3964
AB - 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, including in some cases limitations in activities of daily living. The PYGM gene codifies myophosphoylase and to date 147 pathogenic mutations and 39 polymorphisms have been reported. Exon 1 and 17 are mutational hot-spots in PYGM and 50% of the described mutations are missense.
KW - McArdle disease
KW - Genética
KW - Salud
KW - Ejercicio
KW - Ciencia
LA - eng
ER -