A Novel Missense Mutation in the Gne Gene in an Iranian Patient With Hereditary Inclusion Body Myopathy

A Novel Missense Mutation in the Gne Gene in an Iranian Patient With Hereditary Inclusion Body Myopathy

Behnam M¹ ; Jinhong S² ; Kim DS² ; Basiri K³ ; Nilipour Y³ ; Sedghi M^{1, 4}

Show Affiliations

1. Medical Genetics Laboratory, Alzahra University Hospital, Iran
2. Department of Neurology, Yangsan Hospital, Pusan National University, Yangsan, South Korea
3. Neurology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
4. Neuropathology Lab, Toos Hospital, Tehran, Iran

Source: Journal of Research in Medical Sciences Published:2014

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. © 2014 Isfahan University of Medical Sciences(IUMS). All rights reserved.

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Style	Citing Format
MLA	Behnam M, et al.. "A Novel Missense Mutation in the Gne Gene in an Iranian Patient With Hereditary Inclusion Body Myopathy." Journal of Research in Medical Sciences, vol. 19, no. 8, 2014, pp. 792-794.
APA	Behnam M, Jinhong S, Kim DS, Basiri K, Nilipour Y, Sedghi M (2014). A Novel Missense Mutation in the Gne Gene in an Iranian Patient With Hereditary Inclusion Body Myopathy. Journal of Research in Medical Sciences, 19(8), 792-794.
Chicago	Behnam M, Jinhong S, Kim DS, Basiri K, Nilipour Y, Sedghi M. "A Novel Missense Mutation in the Gne Gene in an Iranian Patient With Hereditary Inclusion Body Myopathy." Journal of Research in Medical Sciences 19, no. 8 (2014): 792-794.
Harvard	Behnam M et al. (2014) 'A Novel Missense Mutation in the Gne Gene in an Iranian Patient With Hereditary Inclusion Body Myopathy', Journal of Research in Medical Sciences, 19(8), pp. 792-794.
Vancouver	Behnam M, Jinhong S, Kim DS, Basiri K, Nilipour Y, Sedghi M. A Novel Missense Mutation in the Gne Gene in an Iranian Patient With Hereditary Inclusion Body Myopathy. Journal of Research in Medical Sciences. 2014;19(8):792-794.
BibTex	@article{ author = {Behnam M and Jinhong S and Kim DS and Basiri K and Nilipour Y and Sedghi M}, title = {A Novel Missense Mutation in the Gne Gene in an Iranian Patient With Hereditary Inclusion Body Myopathy}, journal = {Journal of Research in Medical Sciences}, volume = {19}, number = {8}, pages = {792-794}, year = {2014} }
RIS	TY - JOUR AU - Behnam M AU - Jinhong S AU - Kim DS AU - Basiri K AU - Nilipour Y AU - Sedghi M TI - A Novel Missense Mutation in the Gne Gene in an Iranian Patient With Hereditary Inclusion Body Myopathy JO - Journal of Research in Medical Sciences VL - 19 IS - 8 SP - 792 EP - 794 PY - 2014 ER -

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