ArticleJournal of research in medical sciences : the official journal of Isfahan University of Medical Sciences2014
A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy.
Article in Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 5 citations in OpenAlex.
- Understanding pathophysiology of GNE myopathy and current progress towards drug development.Journal of biosciences · 2024Review
- Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.Journal of cellular and molecular medicine · 2018Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
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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.
Indexed as
Identifiers
25422667PMC4235102W1818448865What OpenQuestion holds
Registered trials
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