Title of article
A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy
Author/Authors
Behnam, Mahdiyeh Alzahra University Hospital - Isfahan University of Medical Sciences, Isfahan , Jin-Hong, Shin Department of Neurology - Yangsan Hospital - Pusan National University - Yangsan, Republic of Korea , Kim, Dae-Seong Department of Neurology - Yangsan Hospital - Pusan National University - Yangsan, Republic of Korea , Basiri, Keivan Isfahan University of Medical Sciences, Isfahan , Nilipour, Yalda Isfahan University of Medical Sciences, Isfahan , Sedghi, Maryam Alzahra University Hospital - Isfahan University of Medical Sciences, Isfahan
Pages
3
From page
792
To page
794
Abstract
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing.
This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
gene mutations. In this study, we report a novel GNE homozygous point mutation c.1834T>G that results in amino acid substitution
of cysteine 612 to glutamine in an Iranian patient. This mutation is located in exon 10 within the kinase domain of the protein.
Keywords
GNE , hIBM , neuromuscular , sialic acid
Journal title
Astroparticle Physics
Serial Year
2014
Record number
2432738
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