[Molecular pathology and gene diagnosis of muscle glycogenosis].

Abstract excerpt

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 d...

Topics

• Genes, Recessive
• Genetic Carrier Screening
• Glycogen Storage Disease Type II
• Glycogen Storage Disease Type V
• Glycogen Storage Disease Type VII
• Humans
• Mutation
• Phosphofructokinase-1
• Phosphorylases
• Prenatal Diagnosis
• alpha-Glucosidases