Ontology highlight
ABSTRACT:
SUBMITTER: Cheng J
PROVIDER: S-EPMC5121310 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Cheng Jidong J Morisaki Hiroko H Sugimoto Naomi N Dohi Atsushi A Shintani Takuya T Kimura Erika E Toyama Keiko K Ikawa Masahito M Okabe Masaru M Higuchi Itsuro I Matsuo Satoshi S Kawai Yasuaki Y Hisatome Ichiro I Sugama Takako T Holmes Edward W EW Morisaki Takayuki T
Molecular genetics and metabolism reports 20140116
Mutation of the AMP deaminase 1 (AMPD1) gene, the predominate AMPD gene expressed in skeletal muscle, is one of the most common inherited defects in the Caucasian population; 2-3% of individuals in this ethnic group are homozygous for defects in the AMPD1 gene. Several studies of human subjects have reported variable results with some studies suggesting this gene defect may cause symptoms of a metabolic myopathy and/or easy fatigability while others indicate individuals with this inherited defec ...[more]