ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022
Clinical, genetic, and pathological characterization of GNE myopathy in China.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 10 citations in OpenAlex.
- Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study.BMC musculoskeletal disorders · 2025Observational
- Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients.Neurology. Genetics · 2024Article
- Understanding pathophysiology of GNE myopathy and current progress towards drug development.Journal of biosciences · 2024Review
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4 authors at 1 institution in 1 country.
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Abstract
backgroundGNE myopathy is the most common distal myopathy in China. We summarized the clinical, genetic, and pathological characteristics of 125 Chinese patients with GNE myopathy.
methodsWe collected clinical data of 21 patients diagnosed at our hospital and 104 patients from previous reports. Clinical, genetic, and pathological characteristics were summarized. According to the location of mutations, patients were classified into groups to analyze genotype-phenotype correlation. We reviewed the pathological features and studied the expressions of neural cell adhesion molecule.
resultsThe severity of involvement of lower limb muscles was in the following order: tibialis anterior > biceps femoris > gastrocnemius > iliopsoas > quadriceps femoris. Mutation p.D207V was the most common variant in China. Patients carrying p.D207V tended to show later disease onset. In the epimerase/epimerase group, men had earlier disease onset than women (p < 0.05). In other groups, age at disease onset in females was earlier than that in males. Protein analysis showed decreased sialylation of NCAM and upregulation of LC3 in patients with different mutations.
conclusionsMutation p.D207V is the most common GNE variant in China. Involvement of flexor muscles in lower limbs was more obvious than extensor muscles. NCAM expression in patients with various mutations may be a useful diagnostic biomarker in GNE myopathy.
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