Ontology highlight
ABSTRACT:
SUBMITTER: Savage DB
PROVIDER: S-EPMC2214798 | biostudies-literature | 2008 Jan
REPOSITORIES: biostudies-literature
Savage David B DB Zhai Lanmin L Ravikumar Balasubramanian B Choi Cheol Soo CS Snaar Johanna E JE McGuire Amanda C AC Wou Sung-Eun SE Medina-Gomez Gemma G Kim Sheene S Bock Cheryl B CB Segvich Dyann M DM Solanky Bhavana B Deelchand Dinesh D Vidal-Puig Antonio A Wareham Nicholas J NJ Shulman Gerald I GI Karpe Fredrik F Taylor Roy R Pederson Bartholomew A BA Roach Peter J PJ O'Rahilly Stephen S DePaoli-Roach Anna A AA
PLoS medicine 20080101 1
<h4>Background</h4>Stored glycogen is an important source of energy for skeletal muscle. Human genetic disorders primarily affecting skeletal muscle glycogen turnover are well-recognised, but rare. We previously reported that a frameshift/premature stop mutation in PPP1R3A, the gene encoding RGL, a key regulator of muscle glycogen metabolism, was present in 1.36% of participants from a population of white individuals in the UK. However, the functional implications of the mutation were not known. ...[more]