Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease
WL Shaiu, PS Kishnani, J Shen, HM Liu… - Molecular genetics and …, 2000 - Elsevier
Deficiency of glycogen debranching enzyme (AGL) activity causes glycogen storage
disease type III (GSD-III). Generalized loss of AGL activity results in GSD-IIIa, and muscle-
specific retention of AGL activity results in GSD-IIIb. To date, no common mutation has been
described among GSD-III patients, except for three alleles; two linked specifically with GSD-
IIIb, and the third found only in North African Jews with GSD-IIIa. Here we report two frequent
mutations, each of which was found in the homozygous state in multiple patients, and each …
disease type III (GSD-III). Generalized loss of AGL activity results in GSD-IIIa, and muscle-
specific retention of AGL activity results in GSD-IIIb. To date, no common mutation has been
described among GSD-III patients, except for three alleles; two linked specifically with GSD-
IIIb, and the third found only in North African Jews with GSD-IIIa. Here we report two frequent
mutations, each of which was found in the homozygous state in multiple patients, and each …