Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum
- 1 September 2015
- journal article
- case report
- Published by Elsevier BV in Neuromuscular Disorders
- Vol. 25 (9), 719-724
- https://doi.org/10.1016/j.nmd.2015.07.002
Abstract
No abstract availableThis publication has 30 references indexed in Scilit:
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited diseaseHuman Genetics, 2013
- A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlationsOrphanet Journal of Rare Diseases, 2012
- Glycogen storage disease type II in Spanish patients: High frequency of c.1076-1G>C mutationMolecular Genetics and Metabolism, 2007
- Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patientsNeuromuscular Disorders, 2007
- Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counsellingEuropean Journal of Human Genetics, 1999
- A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II)Human Molecular Genetics, 1996
- Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.Journal of Medical Genetics, 1995
- Genetic defects in patients with glycogenosis type II (acid maltase deficiency)Muscle & Nerve, 1995
- Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha GlucosidaseDNA and Cell Biology, 1991
- Sequence of the cDNA and 5′-Flanking Region for Human Acid α-Glucosidase, Detection of an Intron in the 5′ Untranslated Leader Sequence, Definition of 18-bp Polymorphisms, and Differences with Previous cDNA and Amino Acid SequencesDNA and Cell Biology, 1990