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Novel missense mutation and large deletion of GNE gene in autosomal‐recessive inclusion‐body myopathy
Author(s) -
Del Bo Roberto,
Baron Pierluigi,
Prelle Alessandro,
Serafini Massimo,
Moggio Maurizio,
Fonzo Alessio Di,
Castagni Marina,
Bresolin Nereo,
Comi Giacomo Pietro
Publication year - 2003
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10391
Subject(s) - missense mutation , exon , genetics , biology , gene , myopathy , compound heterozygosity , mutation , allele , pathogenesis , microbiology and biotechnology , immunology
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