A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy

C. Bruno, M. DiRocco, L. Doria Lamba, M. Bado, C. Marino, S. Tsujino, S. Shanske, G. Stella, C. Minetti, O. P. Van Diggelen, S. DiMauro

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)403-407
Number of pages5
JournalNeuromuscular Disorders
Volume9
Issue number6-7
DOIs
Publication statusPublished - 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