title: A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
abstract: We have identified a novel missense mutation in the gene for glycogen branching enzyme (GBE 1) in a 16-month-old infant with a combination of hepatic and muscular features, an atypical clinical presentation of glycogenosis type IV (GSD IV). The patient was heterozygous for a G-to-A substitution at codon 524 (R524Q), changing an encoded arginine (CGA) to glutamine (CAA), while the GBE1 gene on the other allele was not expressed. This case broadens the spectrum of mutations in patients with GSD IV and confirms the clinical and molecular heterogeneity of this disease.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons, New York 10032, USA.
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: M
authors.initials: M
authors.lastname: DiRocco
authors.forename: L D
authors.initials: LD
authors.lastname: Lamba
authors.forename: M
authors.initials: M
authors.lastname: Bado
authors.forename: C
authors.initials: C
authors.lastname: Marino
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: G
authors.initials: G
authors.lastname: Stella
authors.forename: C
authors.initials: C
authors.lastname: Minetti
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000235:genetics*; D019943:Amino Acid Substitution; D001120:Arginine; D001483:Base Sequence; D003594:Cytoplasmic Granules / Q000473:pathology / Q000648:ultrastructure; D005973:Glutamine; D006011:Glycogen Storage Disease Type IV / Q000201:enzymology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology* / Q000648:ultrastructure; D008107:Liver Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense
chemical_list: D005973:Glutamine; D001120:Arginine; D015061:1,4-alpha-Glucan Branching Enzyme