ArticleClinical case reports2022
Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review.
Article in Clinical case reports, 2022. 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, 14 citations in OpenAlex.
- Biosynthetic and genetic pathways related to sialic acid metabolism.The Journal of biological chemistry · 2026Review
- Article
- [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy.Annals of hematology · 2024Article
- Understanding pathophysiology of GNE myopathy and current progress towards drug development.Journal of biosciences · 2024Review
- Hemostatic defects in congenital disorders of glycosylation.Research and practice in thrombosis and haemostasis · 2023Article
- Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle.Journal of neuromuscular diseases · 2023Article
- Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review.Clinical case reports · 2022Article
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Authors and funding
5 authors at 1 institution in 1 country.
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Abstract
We reported a GNE myopathy with congenital thrombocytopenia on a young male patient. He presented with a 3-year history of lower distal extremity weakness initially affecting his legs. The weakness slowly progressed to lower proximal legs and upper arms last 6 months. Whole-exome sequencing revealed that the patient harbored two heterozygous gene mutations, including a novel insertion mutation c.*1037_*1038CACACACACACACACACACACA and c.C478T in exome 12 and 3 of the GNE gene (NM_001128227), respectively. The levels of serum sialic acid in this patient were considerably decreased. Muscle MRI imaging showed the anterior and medial parts of his quadriceps were heavily affected by this disease. Hematoxylin and eosin staining showed prominent rimmed vacuoles with a lack of inflammatory response in the atrophied muscle. We also undertook a review of the current literature, searching for reports in which the GNE gene mutation caused the thrombocytopenia with or without muscle weakness. This new gene mutation finding broadens the GNE disease genotype spectrum, and further investigation of the relationship between GNE gene mutations and the heterogeneity of its clinical manifestations is needed.
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