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

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 no...

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Bibliographic Details
Main Authors: Mahdiyeh Behnam, Shin Jin-Hong, Dae-Seong Kim, Keivan Basiri, Yalda Nilipour, Maryam Sedghi
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2014-01-01
Series:Journal of Research in Medical Sciences
Subjects:
GNE
hIBM
neuromuscular
sialic acid
Online Access:http://www.jmsjournal.net/article.asp?issn=1735-1995;year=2014;volume=19;issue=8;spage=792;epage=794;aulast=Behnam

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http://www.jmsjournal.net/article.asp?issn=1735-1995;year=2014;volume=19;issue=8;spage=792;epage=794;aulast=Behnam

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