Glycogen storage disease type II in Spanish patients:: High frequency of c.1076-1G>C mutation

被引：41
作者：
Gort, Laura
Coll, M. Josep
Chabas, Amparo
机构：
[1] Hosp Clin Barcelona, Inst Bioquim Clin, Barcelona 08028, Spain
[2] Ctr Invest Biomed Enfermedades Raras CIBERER, Barcelona, Spain
来源：
MOLECULAR GENETICS AND METABOLISM | 2007年 / 92卷 / 1-2期
关键词：
acid alpha-glucosidase; GAA; glycogen storage disease; haplotype analysis; lysosomal storage disorder; molecular analysis; Pompe disease;
D O I：
10.1016/j.ymgme.2007.05.011
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Glycogen storage disease type II is an autosomal recessive disorder of glycogen metabolism due to deficiency of lysosomal acid a-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. (C) 2007 Elsevier Inc. All rights reserved.
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收藏
页码：183 / 187
页数：5
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