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

作者信息

Bruno C, DiRocco M, Lamba L D, Bado M, Marino C, Tsujino S, Shanske S, Stella G, Minetti C, van Diggelen O P, DiMauro S

机构信息

H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons, New York 10032, USA.

出版信息

Neuromuscul Disord. 1999 Oct;9(6-7):403-7. doi: 10.1016/s0960-8966(99)00040-1.

DOI:10.1016/s0960-8966(99)00040-1

PMID: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.

摘要