Molecular pathology and gene diagnosis of muscle glycogenosis
Suzuki, Y.
Nihon Rinsho. Japanese Journal of Clinical Medicine 55(12): 3302-3306
1997
ISSN/ISBN: 0047-1852 PMID: 9436455 Document Number: 483647
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.