ArticleNeuromuscular disorders : NMD2018
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
Article in Neuromuscular disorders : NMD, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.Journal of neuromuscular diseases · 2025Pooled it
- Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.Orphanet journal of rare diseases · 2023Trial
- A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.Neurology · 2019Trial
- GNE Myopathy: 25 Years After Gene Identification-Facts, Controversies, Enigmas, Prospects.Journal of clinical medicine · 2026Review
- Biosynthetic and genetic pathways related to sialic acid metabolism.The Journal of biological chemistry · 2026Review
- Article
- Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study.BMC musculoskeletal disorders · 2025Observational
- Molecular genetics and therapeutic development for GNE myopathy.Journal of human genetics · 2025Review
- Long term clinical follow-up and natural history in a cohort of Italian patients with GNE myopathy: the experience of a single centre.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances.Annals of Indian Academy of Neurology · 2025Article
- GNE myopathy with premature ovarian failure: Case report and review of the literature.Molecular genetics and metabolism reports · 2025Article
- Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G>C, p.V603L) over Four Decades after the Onset.Internal medicine (Tokyo, Japan) · 2025Article
- Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.Journal of neurology · 2025Article
- Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients.Neurology. Genetics · 2024Article
- Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.Molecules (Basel, Switzerland) · 2024Article
- RecessiveGenes · 2024Article
- GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.Journal of neuromuscular diseases · 2024Observational
- Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.Human mutation · 2024Article
- Glycation Interferes with the Activity of the Bi-Functional UDP-Biomolecules · 2023Article
- Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.Scientific reports · 2022Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
GNE myopathy is a rare distal myopathy, caused by mutations in the GNE gene, affecting sialic acid synthesis. Clinical presentation varies from asymptomatic early stage patients to severely debilitating forms. This first report describes clinical presentations and severity of the disease, using data of 150 patients collected via the on-line, patient-reported registry component of the GNE Myopathy Disease Monitoring Program (GNEM-DMP). Disease progression was prospectively analysed, over a 2-year period, using the GNE myopathy functional activity scale (GNEM-FAS). The average annual rates of decline in function were estimated at -9.6% and -3.2% in ambulant and non-ambulant patients respectively. 4.3% of participants became non-ambulant within one year. The mean time from onset to required use of a wheelchair was 11.9 years. Mean delay of genetic diagnosis from symptom onset was 5.2 years. Mutation specific analysis demonstrated genotype-phenotype relationships; i.e. p.Ala662Val may be associated with a more severe phenotype, compared to p.Val727Met. Patients with compound heterozygous mutation in epimerase and kinase domain appeared to have a more severe phenotype compared to patients with both mutations located within one domain. Acknowledging the limitations of the study, these findings suggest that the severity of the GNE mutations affects disease severity. The GNEM-DMP is a useful data collection tool, prospectively measuring the progression of GNE myopathy, which could play an important role in translational and clinical research and further understanding of genotype-phenotype correlations.
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