학술논문
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
Document Type
Article
Author
Source
Subject
*GENES
*MUSCLE diseases
*GENETIC mutation
*EXONS (Genetics)
*AMINO acids
*
*
*
*
Language
ISSN
0148-639X
Abstract
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene is the causative gene for autosomal-recessive hereditary inclusion-body myopathy (h-IBM). Two sisters affected with autosomal-recessive h-IBM were shown to be compound heterozygous for two novel GNE mutations: a large deletion involving exons 19, and a R162C amino acid change in the epimerase domain. This is the first deletion event observed in a GNE allele and expands the molecular pathogenesis of autosomal-recessive h-IBM. Muscle Nerve 28: 113117, 2003 [ABSTRACT FROM AUTHOR]