GNE myopathy: History, etiology, and treatment trials [PDF]
Frontiers in Neurology, 2022 GNE myopathy is an ultrarare muscle disease characterized by slowly progressive muscle weakness. Symptoms typically start in early adulthood, with weakness and atrophy in the tibialis anterior muscles and with slow progression over time, which largely ...
Jeffrey Mullen +4 more
doaj +8 more sources
Different electrophysiology patterns in GNE myopathy [PDF]
Orphanet Journal of Rare Diseases, 2022 Background GNE myopathy is a rare distal myopathy caused by mutations of the GNE gene. A few cases of GNE myopathy accompanied by neurogenic features of electrophysiology mimicking hereditary motor neuropathy were reported recently.
Xiangyi Liu +6 more
doaj +4 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 +8 more sources
GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy [PDF]
Frontiers in Neurology, 2018 GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist.
Tyler Soule +7 more
doaj +5 more sources
Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy [PDF]
npj Regenerative Medicine, 2022 Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy (GNEM) is an autosomal recessive distal myopathy with rimmed vacuoles typically manifesting in ...
Rebecca E. Schmitt +8 more
doaj +2 more sources
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy [PDF]
Scientific Reports, 2022 GNE myopathy is a distal myopathy caused by biallelic variants in GNE, which encodes a protein involved in sialic acid biosynthesis. Compound heterozygosity of the second most frequent variant among Japanese GNE myopathy patients, GNE c.620A>T encoding p.
Wakako Yoshioka +16 more
doaj +2 more sources
Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies. [PDF]
PLoS ONEObjectivesPrevious muscle imaging studies of GNE myopathy are limited to the lower extremities. This study aimed to use whole-body MRI to differentiate between GNE myopathy and other young adult-onset hereditary myopathies.Materials and methodsThis ...
Pattira Boonsri +9 more
doaj +2 more sources
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 +5 more sources
Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study [PDF]
BMJ Neurology Open, 2022 Background A number of clinical trials targeting GNE myopathy patients have been conducted. However, useful clinical parameters for postmarketing surveillance and long-term clinical observation have not yet been established.Objective We conducted a 5 ...
Yuji Takahashi +6 more
doaj +2 more sources
Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan [PDF]
Orphanet Journal of Rare Diseases, 2020 Background GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric ...
Wakako Yoshioka +8 more
doaj +2 more sources