Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.4.1.18 (
branching enzyme
)
628
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 1054 44
