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
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
