Novel missense mutation and large deletion of  GNE  gene in autosomal‐recessive inclusion‐body myopathy | Zendy

Del Bo Roberto | Zendy; Baron Pierluigi | Zendy; Prelle Alessandro | Zendy; Serafini Massimo | Zendy; Moggio Maurizio | Zendy; Fonzo Alessio Di | Zendy; Castagni Marina | Zendy; Bresolin Nereo | Zendy; Comi Giacomo Pietro | Zendy

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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

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