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

doi:10.1016/S0960-8966(99)00040-1

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

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	https://doi.org/10.1016/S0960-8966(99)00040-1
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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A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. / 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.

In: Neuromuscular Disorders, Vol. 9, No. 6-7, 01.10.1999, p. 403-407.

Research output: Contribution to journal › Article › peer-review

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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.",

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AU - Doria Lamba, L.

AU - Bado, M.

AU - Marino, C.

AU - Tsujino, S.

AU - Shanske, S.

AU - Stella, G.

AU - Minetti, C.

AU - Van Diggelen, O. P.

AU - DiMauro, S.

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