title: A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy.
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.
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Mahdiyeh
authors.initials: M
authors.lastname: Behnam
authors.affiliation: Department of Neurology, Yangsan Hospital, Pusan National University, Yangsan, Republic of Korea.
authors.forename: Shin
authors.initials: S
authors.lastname: Jin-Hong
authors.affiliation: Department of Neurology, Yangsan Hospital, Pusan National University, Yangsan, Republic of Korea.
authors.forename: Dae-Seong
authors.initials: DS
authors.lastname: Kim
authors.affiliation: Neurology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Keivan
authors.initials: K
authors.lastname: Basiri
authors.affiliation: Neurology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran ; Neuropathology Lab, Toos Hospital, Tehran, Iran.
authors.forename: Yalda
authors.initials: Y
authors.lastname: Nilipour
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Sedghi
keywords: GNE; hIBM; neuromuscular; sialic acid