Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy. [PDF]
Neurology, 2021 To characterize muscle involvement and evaluate disease severity in patients with GNE myopathy using skeletal muscle MRI and proton magnetic resonance spectroscopy (1H-MRS).Skeletal muscle imaging of the lower extremities was performed in 31 patients with genetically confirmed GNE myopathy, including T1-weighted and short tau inversion recovery (STIR ...
Liu CY +9 more
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GNE myopathy with premature ovarian failure: Case report and review of the literature [PDF]
Molecular Genetics and Metabolism ReportsGNE myopathy (GNE-M) is an ultra-rare disease characterized by muscle weakness in the extremities. The main etiology is that a pathogenic variation in the GNE gene leads to a reduction in sialic acid synthesis.
Shangyi Yang, Jine Yang
doaj +2 more sources
Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy [PDF]
MoleculesGNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults.
Cristina Manis +9 more
doaj +2 more sources
Cell stress molecules in the skeletal muscle of GNE myopathy [PDF]
BMC Neurology, 2013 Abstract Background Mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine-kinase (GNE)-gene are causally related to GNE myopathy. Yet, underlying pathomechanisms of muscle fibre damage have remained elusive.
Fischer, Charlotte +6 more
openaire +4 more sources
Atypical presentation of GNE myopathy with asymmetric hand weakness [PDF]
Neuromuscular Disorders, 2014 GNE myopathy is a rare autosomal recessive muscle disease caused by mutations in GNE, the gene encoding the rate-limiting enzyme in sialic acid biosynthesis. GNE myopathy usually manifests in early adulthood with distal myopathy that progresses slowly and symmetrically, first involving distal muscles of the lower extremities, followed by proximal ...
Joseph A Shrader +2 more
exaly +3 more sources
Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy [PDF]
Molecular Genetics and MetabolismDefects in sialic acid metabolism disrupt the sialylation of glycoproteins and glycolipids, contributing to a spectrum of diseases, including GNE myopathy (GNEM). This rare disorder is caused by mutations in the GNE gene that encodes for a bifunctional enzyme required for sialic acid biosynthesis, resulting in progressive muscle atrophy and weakness ...
Beatriz L, Pereira +4 more
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Unfolded protein response and activated degradative pathways regulation in GNE myopathy.
PLoS ONE, 2013 Although intracellular beta amyloid (Aβ) accumulation is known as an early upstream event in the degenerative course of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) myopathy, the process by which Aβdeposits initiate various ...
Honghao Li +8 more
doaj +2 more sources
Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre [PDF]
Journal of Cellular and Molecular Medicine, 2021 Kai-Yue Zhang +2 more
exaly +2 more sources
Journal of Research in Medical Sciences, 2014 Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
Mahdiyeh Behnam +5 more
doaj +1 more source
Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy. [PDF]
J Neuromuscul Dis, 2021 BACKGROUND: GNE myopathy is a rare, autosomal recessive, muscle disease caused by mutations in GNE and is characterized by rimmed vacuoles on muscle biopsy and progressive distal to proximal muscle weakness.
Lochmüller H +11 more
europepmc +2 more sources