A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
Neuromuscul Disord
; 9(6-7): 403-7, 1999 Oct.
Article
in En
| MEDLINE
| ID: mdl-10545044
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.
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Database:
MEDLINE
Main subject:
Muscle, Skeletal
/
Mutation, Missense
/
1,4-alpha-Glucan Branching Enzyme
/
Liver
/
Liver Diseases
/
Muscular Diseases
Type of study:
Prognostic_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Year:
1999
Type:
Article