Zhonghua Gan Zang Bing Za Zhi 2017 Dec;25(12):942-943
Second department of hepatology, Beijing Ditan Hospital, Capital Medical University, Beijing 100015, China.
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Neuromuscul Disord 2002 Feb;12(2):159-66
Division of Medical Genetics, Department of Medicine, New York University School of Medicine, 550 First Avenue, New York, NY 10016, USA.
Glycogen storage disease type II is an autosomal recessive muscle disorder due to deficiency of lysosomal acid alpha-glucosidase and the resulting intralysosomal accumulation of glycogen. We found six novel mutations in three Spanish classic infantile onset glycogen storage disease type II patients with involvement of both cardiac and skeletal muscle; three missense mutations (G219R, E262K, M408V), a nonsense mutation (Y191X), a donor splice site mutation (IVS18 +2gt>ga) and an in frame deletion of an asparagine residue (nt1408-1410). The missense mutations were not found in 100 normal chromosomes and therefore are not normal polymorphic variants. Read More
Arkh Patol 1980 ;42(12):61-71
Different types of hepatic, muscular, and generalized forms of glycogen stogare disease, a hereditary disease caused by glycogen metabolism disorders, are analysed. The clinical and biochemical features of these diseases are described. The data on enzyme defects and methods for their detection in different types of glycogenoses as well as on the prevalence of the disease in different countries are presented. Read More
CMAJ 2015 Feb 19;187(2):E68-73. Epub 2015 Jan 19.
Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children's Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children's Hospital, McGill University Health Centre, Montréal, Que.; Department of Pediatrics and Child Health (Rodd), Winnipeg, Man.
Background: Glycogen storage disease type III is caused by mutations in both alleles of the AGL gene, which leads to reduced activity of glycogen-debranching enzyme. The clinical picture encompasses hypoglycemia, with glycogen accumulation leading to hepatomegaly and muscle involvement (skeletal and cardiac). We sought to identify the genetic cause of this disease within the Inuit community of Nunavik, in whom previous DNA sequencing had not identified such mutations. Read More