Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan

Molecular characterisation of GSD III subjects and identification of six novel mutations inAGL

“…Neuromuscular involvement, with high levels of CK, affected patient 3, though still a child, 4, 5 and 8. The first two, sharing the splice-site alterations on intron 21, showed also the same symptoms excluding hepatomegaly which, however, tends to As previously discussed (Lucchiari et al, 2002), it is difficult to establish any genotypic-phenotypic correlation due to the poor knowledge on the type of domains composing the AGL protein and their sequential disposition (Yang et al, 1992;Okubo et al, 2000). Up to date, the only information available in SWISS-PROT databank concerns the amylo-1,6-glucosidase catalytic domain, supposed to localise in the carboxyterminus of the AGL protein.…”

Myopathies Related to Glycogen Metabolism Disorders

“…Debranching enzyme is a monomeric enzyme but has 2 catalytic activities: amylo-1,6-glucosidase and 4-α-glucanotransferase. It is encoded for by the AGL gene, and homozygous or compound heterozygous autosomal recessive mutations result in 2 main subcategories: GSD IIIa and GSD IIIb [30][31][32][33]. Subcategory IIIb is less common (15%) and exclusively hepatic, IIIa being the most common (85%), and presents with hepatopathy, cardiomyopathy, and myopathy with weakness and hyperCKemia [31,33,34].…”

“…It is encoded for by the AGL gene, and homozygous or compound heterozygous autosomal recessive mutations result in 2 main subcategories: GSD IIIa and GSD IIIb [30][31][32][33]. Subcategory IIIb is less common (15%) and exclusively hepatic, IIIa being the most common (85%), and presents with hepatopathy, cardiomyopathy, and myopathy with weakness and hyperCKemia [31,33,34]. Some patients can present only with muscle weakness and hyperCKemia and not other overt clinical features [35][36][37][38].…”

Characterization of a SINE indel polymorphism in the porcine AGL gene and assignment of the gene to chromosome 4q

“…The human gene maps to chromosome 1p21 2 . To study the porcine AGL gene PCR primers (pair 1) were designed using human genomic DNA sequence, exons 26 and 27 3 (EMBL accession numbers , ). The ∼4.2‐kb fragment was cloned and end‐sequenced to verify the identity with AGL .…”