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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 ...
Tahseen Mozaffar
exaly +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
Genetic and Clinical Spectrum of GNE Myopathy in Russia [PDF]
Genes, 2022 GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some pathogenic variants in the GNE gene. We collected the largest cohort of patients with GNEM from Russia and analyzed their mutational spectrum and clinical data.
Aysylu Murtazina +2 more
exaly +4 more sources
Fighting the Cause of Alzheimer’s and GNE Myopathy [PDF]
Frontiers in Neuroscience, 2018 Age is the common risk factor for both neurodegenerative and neuromuscular diseases. Alzheimer disease (AD), a neurodegenerative disorder, causes dementia with age progression while GNE myopathy (GNEM), a neuromuscular disorder, causes muscle ...
Shreedarshanee Devi +3 more
doaj +5 more sources
GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges [PDF]
Neurotherapeutics, 2018 GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive skeletal muscle atrophy. It has an estimated prevalence of 1 to 9:1,000,000. GNE myopathy is caused by mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid ...
Núria Carrillo-Carrasco +2 more
exaly +5 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.
Cecile Phan +2 more
exaly +4 more sources
Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy [PDF]
Journal of Cellular and Molecular Medicine, 2018 AbstractGNE myopathy is a rare, recessively inherited, early adult‐onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is caused by mutations in the UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase gene (GNE).
Yuan Wu, Lamei Yuan, Hongbo Xu
exaly +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