[Molecular pathology and gene diagnosis of muscle glycogenosis].
Three types of muscle glycogenosis are briefly reviewed for recent progress in molecular pathology and gene diagnosis, type II glycogenosis (Pompe disease), type V glycogenosis (McArdle disease) and type VII glycogenosis (Tarui disease). Various mutations of the gene responsible for each enzyme defect have been identified and used for diagnosis. Correlation between phenotype and genotype is not clearly understood in these disease, although some mutations are definitely correlated to specific clinical types.
Suzuki
Y
Y
Tokyo Metropolitan Institute of Medical Science.
D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000235:genetics; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis* / Q000235:genetics; D006014:Glycogen Storage Disease Type VII / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009154:Mutation; D010732:Phosphofructokinase-1 / Q000172:deficiency / Q000235:genetics; D006005:Phosphorylases / Q000172:deficiency / Q000235:genetics; D011296:Prenatal Diagnosis; D000520:alpha-Glucosidases / Q000172:deficiency / Q000235:genetics
D006005:Phosphorylases; D010732:Phosphofructokinase-1; D000520:alpha-Glucosidases