Document Detail


Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
MedLine Citation:
PMID:  17616415     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Glycogen storage disease type II is an autosomal recessive disorder of glycogen metabolism due to deficiency of lysosomal acid alpha-glucosidase. We present the molecular and enzymatic analyses of 22 Spanish GSD II patients. Molecular analyses revealed nine novel mutations. The most common defects were mutations c.-32-13T>G (25%) and c.1076-1G>C (14%) and we report the first homozygous patient for c.1076-1G>C mutation presenting with an infantile form. Alleles bearing mutation c.-32-13T>G are associated with the same haplotype.
Authors:
Laura Gort; M Josep Coll; Amparo Chabás
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-07-05
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  92     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:    2007 Sep-Oct
Date Detail:
Created Date:  2007-09-10     Completed Date:  2007-11-29     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  183-7     Citation Subset:  IM    
Affiliation:
Institut de Bioquímica Clínica, Hospital Clínic, C/ Mejía Lequerica s/n, Edifici Helios III, 08028 Barcelona, Spain.
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MeSH Terms
Descriptor/Qualifier:
Adult
Age of Onset
Aged
Child
Child, Preschool
Glycogen Storage Disease Type II / epidemiology,  genetics*
Homozygote
Humans
Infant
Infant, Newborn
Lysosomes / enzymology
Middle Aged
Mutation*
Spain / epidemiology
alpha-Glucosidases / genetics*,  metabolism
Chemical
Reg. No./Substance:
EC 3.2.1.20/alpha-Glucosidases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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