Article
Missense mutations have unexpected consequences: The McArdle disease paradigm.
Human mutation - 1 Oct 2018
García-Consuegra Inés, Asensio-Peña Sara, Ballester-Lopez Alfonsina, Francisco-Velilla Rosario, Pinos Tomás, Pintos-Morell Guillem, Coll-Cantí Jaume, González-Quintana Adrián, Andreu Antoni L, Arenas Joaquín, Lucia Alejandro, Nogales-Gadea Gisela, Martín Miguel A
Abstract excerpt
McArdle disease is a disorder of muscle glycogen metabolism caused by mutations in the PYGM gene, encoding for the muscle-specific isoform of glycogen phosphorylase (M-GP). The activity of this enzyme is completely lost in patients' muscle biopsies, when measured with a standard biochemical test which, does not allow to determine M-GP protein levels. We aimed to determine M-GP protein levels in the muscle of...
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