关键词: GYG1 Glycogenin deficiency Glycogenosis Polyglucosan myopathy
Mesh : Adult Aged DNA Mutational Analysis Female Glucans / genetics Glucosyltransferases / genetics Glycogen Storage Disease / genetics Glycoproteins / genetics Homozygote Humans Magnetic Resonance Imaging Male Middle Aged Muscle, Skeletal / pathology ultrastructure Mutation / genetics Nervous System Diseases / genetics
来 源: DOI:10.1016/j.nmd.2015.10.012