A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy. [PDF]
Medicine (Baltimore), 2020 Miao J, Wei XJ, Wang X, Yin X, Yu XF.
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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. [PDF]
Intern MedSakai K, Yamada S, Higuchi Y, Nishino I.
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GNE Myopathy with Prominent Axial Muscle Involvement. [PDF]
J Clin Neurol, 2018 Park JM, Shin JH, Park JS.
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Quantification of lectin fluorescence in GNE myopathy muscle biopsies. [PDF]
Muscle Nerve, 2018 Leoyklang P +7 more
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Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. [PDF]
Muscle Nerve, 2019 Chakravorty S +10 more
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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 [PDF]
Neuromuscular Disorders, 2018 \ua9 2017 The Authors. 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.
Ichizo Nishino +2 more
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Mutation Update for GNE Gene Variants Associated with GNE Myopathy
Human Mutation, 2014William A Gahl +2 more
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