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 GBEl 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. Copyright (C) 1999 Elsevier Science B.V.
| Original language | English |
|---|---|
| Pages (from-to) | 403-407 |
| Number of pages | 5 |
| Journal | Neuromuscular Disorders |
| Volume | 9 |
| Issue number | 6-7 |
| DOIs | |
| Publication status | Published - Oct 1 1999 |
Keywords
- Congenital myopathy
- Glycogen branching enzyme
- Glycogenoses type IV
- Hepatosplenomegaly
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology
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Cite this
Bruno, C., DiRocco, M., Doria Lamba, L., Bado, M., Marino, C., Tsujino, S., Shanske, S., Stella, G., Minetti, C., Van Diggelen, O. P., & DiMauro, S. (1999). A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. Neuromuscular Disorders, 9(6-7), 403-407. https://doi.org/10.1016/S0960-8966(99)00040-1