Journal article
Myopathies Related to Glycogen Metabolism Disorders
Abstract
Most of the glycogen metabolism disorders that affect skeletal muscle involve enzymes in glycogenolysis (myophosphorylase (PYGM), glycogen debranching enzyme (AGL), phosphorylase b kinase (PHKB)) and glycolysis (phosphofructokinase (PFK), phosphoglycerate mutase (PGAM2), aldolase A (ALDOA), β-enolase (ENO3)); however, 3 involve glycogen synthesis (glycogenin-1 (GYG1), glycogen synthase (GSE), and branching enzyme (GBE1)). Many present with …
Authors
Tarnopolsky MA
Journal
Neurotherapeutics, Vol. 15, No. 4, pp. 915–927
Publisher
Elsevier
Publication Date
October 2018
DOI
10.1007/s13311-018-00684-2
ISSN
1933-7213