A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series [PDF]
Journal of Medical Case ReportsBackground GNE myopathy, also referred to as bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase myopathy, is a progressive distal myopathy marked by rimmed vacuoles and linked to a variety of disease-causing genetic variants ...
Shafaq Saleem +4 more
doaj +3 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 +4 more sources
Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances [PDF]
Annals of Indian Academy of NeurologyGNE myopathy is a rare, adult-onset, autosomal recessive muscle disorder caused by biallelic pathogenic variants in the GNE gene, which encodes a key enzyme in the biosynthesis of sialic acid. Deficient GNE enzyme activity results in decreased production
Wakako Yoshioka +2 more
doaj +3 more sources
GNE myopathy: from clinics and genetics to pathology and research strategies [PDF]
Orphanet Journal of Rare Diseases, 2018 GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova +4 more
doaj +7 more sources
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]
PLoS ONE, 2008 BACKGROUND: Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
Shira Amsili +7 more
doaj +3 more sources
Subclinical Respiratory Muscle Weakness and Obstructive Sleep Apnea are Common in Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) Myopathy [PDF]
Annals of Indian Academy of NeurologyGlucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) myopathy is a rare, slowly progressive myopathy primarily affecting distal muscles.
Esen Kiyan +3 more
doaj +2 more sources
Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study [PDF]
BMC Musculoskeletal DisordersIntroduction GNE myopathy is a rare autosomal recessive hereditary myopathy resulting in impaired sialic acid biosynthesis. The features of this condition include distal muscle weakness with relatively preserved quadriceps femoris strength and the ...
Jinliang Deng +8 more
doaj +2 more sources
Asymmetric Distal-Onset GNE Myopathy Mimicking Peripheral Neuropathy: A Case Report [PDF]
Case Reports in NeurologyIntroduction: GNE myopathy is a rare autosomal recessive distal myopathy classically characterized by symmetrical distal muscle weakness with relative quadriceps sparing. However, phenotypic variability, including asymmetric onset, may obscure
Dipta Chandra Kuri +3 more
doaj +2 more sources
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan [PDF]
Orphanet Journal of Rare Diseases, 2023 Background A rare muscle disease, GNE myopathy is caused by mutations in the GNE gene involved in sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic acid to patients slows disease progression ...
Madoka Mori-Yoshimura +17 more
doaj +2 more sources
Preclinical assessment of GNEwt/bi-shRNA-GNEM743T lipoplex product development for GNE myopathy [PDF]
Future Science OAAims GNE myopathy is a heredity disease of unmet medical need associated with progressive skeletal muscle wasting, atrophy and weakness caused by mutations in the GNE gene. GNE plays a pivotal role in sialic acid production.
Fabienne Kerneis +11 more
doaj +2 more sources