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: Mahdiyeh Behnam, Shin Jin-Hong, Dae-Seong Kim, Keivan Basiri, Yalda Nilipour, Maryam Sedghi
• Journal: Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences (J Res Med Sci) Vol. 19 Issue 8 Pg. 792-4 (Aug 2014) ISSN: 1735-1995 [Print] India
• PMID: 25422667 (Publication Type: Case Reports)