Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy

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 dele...

Full description

Saved in:
Bibliographic Details
Published in:Muscle & nerve 2003-07, Vol.28 (1), p.113-117
Main Authors: Del Bo, Roberto, Baron, Pierluigi, Prelle, Alessandro, Serafini, Massimo, Moggio, Maurizio, Fonzo, Alessio Di, Castagni, Marina, Bresolin, Nereo, Comi, Giacomo Pietro
Format: Article
Language:English
Subjects:
Actin Cytoskeleton - pathology
Adult
AR h-IBM
Biological and medical sciences
Blotting, Southern
Diseases of striated muscles. Neuromuscular diseases
DNA - genetics
Exons - genetics
Female
Gait Disorders, Neurologic - etiology
Gene Deletion
Genes, Recessive - genetics
GNE gene
Heterozygote
Humans
large deletion
Medical sciences
Microscopy, Electron
missense mutation
muscle biopsy
Muscle, Skeletal - pathology
Mutation, Missense - genetics
Mutation, Missense - physiology
Myositis, Inclusion Body - genetics
Myositis, Inclusion Body - pathology
Neurology
Phosphotransferases (Alcohol Group Acceptor) - genetics
Reverse Transcriptase Polymerase Chain Reaction
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 1—9, 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: 113–117, 2003
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.10391