ArticleJournal of cellular and molecular medicine2018
Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.
Article in Journal of cellular and molecular medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- Effects of a homozygous missense mutation in theZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025Article
- The role of amyloid β in the pathological mechanism of GNE myopathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- Clinical, genetic, and pathological characterization of GNE myopathy in China.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review.Clinical case reports · 2022Article
- Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre.Journal of cellular and molecular medicine · 2021Article
- Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review.BMC medical genetics · 2020Article
- High expression of eukaryotic initiation factor 3M predicts poor prognosis in colon adenocarcinoma patients.Oncology letters · 2020Article
- 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
11 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
GNE myopathy is a rare, recessively inherited, early adult-onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE). This study aimed to identify the disease-causing mutation in a three-generation Han-Chinese family with members who have been diagnosed with myopathy. A homozygous missense mutation, c.1627G>A (p.V543M) in the GNE gene co-segregates with the myopathy present in this family. A GNE myopathy diagnosis is evidenced by characteristic clinical manifestations, rimmed vacuoles in muscle biopsies and the presence of biallelic GNE mutations. This finding broadens the GNE gene mutation spectrum and extends the GNE myopathy phenotype spectrum.
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