Condition: NONAKA MYOPATHY


rs1057516364 in CLTA;GNE gene and NONAKA MYOPATHY PMID 23558691 2013 Novel GNE compound heterozygous mutations in a GNE myopathy patient.

PMID 24027297 2014 Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).

PMID 15136692 2004 Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.

PMID 19917666 2010 Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.

PMID 24796702 2014 Mutation update for GNE gene variants associated with GNE myopathy.

PMID 25986339 2015 Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.

PMID 22196754 2011 Eighteen mutations in GNE gene were identified. c.317T>C (p.I106T) was a novel GNE gene mutation. c.1892C>T (p.A631V), c.527A>T (p.D176V) and c.1523T>C (p.L508S) were the common GNE mutations in Chinese DMRV patients.

PMID 21307865 2011 The allelic frequency of c.1523T>C (p.L508S) was 25% in the Chinese patients with DMRV.

PMID 16503651 2006 Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.

PMID 14707127 2004 Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.

PMID 22883483 2012 Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.

PMID 12177386 2002 Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.

PMID 11916006 2002 Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).

PMID 12473753 2002 Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.

PMID 12497639 2003 Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

PMID 12409274 2002 Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).

PMID 12811782 2003 Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

PMID 12913203 2003 GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.

PMID 15146476 2004 Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

PMID 12325084 2002 A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.

PMID 11528398 2001 The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

PMID 12473769 2002 GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.

PMID 12473780 2002 An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.

PMID 21708040 2011 Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

PMID 24005727 2014 GNE myopathy in India.

PMID 27829678 2017 Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.

PMID 28717665 2017 We report two siblings of Indian descent with characteristic features of GNE myopathy, including progressive skeletal muscle weakness initially involving the anterior tibialis, and rimmed vacuoles on muscle biopsy, in which a heterozygous mutation, p.Val727Met, was identified in both affected siblings, but no other deleterious variants in either coding region or exon-intron boundaries of the gene.

PMID 23549799 2013 Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.

PMID 20175955 2010 Mutation analysis revealed compound heterozygous mutations in the GNE gene, encoding the key enzyme in sialic acid synthesis UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase: a missense mutation (c.2086G > A; p.V696M) previously described in HIBM patients of Indian origin, and a novel frame shift mutation (c.1295delA; p.K432RfsX17) leading to a premature stopcodon.

PMID 16810679 2006 We herein report four Thai patients with DMRV who carried compound heterozygous mutations of the GNE gene including three novel (p.G89R, p.P511T, and p.I656N) and two known mutations (p.A524V and p.V696M).

PMID 23437777 2013 Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.

PMID 25002140 2015 GNE myopathy: current update and future therapy.

PMID 25182749 2014 Atypical presentation of GNE myopathy with asymmetric hand weakness.

PMID 17261181 2007 Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.

PMID 17098358 2007 Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family.

PMID 20059379 2010 Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.

PMID 25966635 2016 Genetics of GNE myopathy in the non-Jewish Persian population.

PMID 24695763 2014 Two recurrent mutations are associated with GNE myopathy in the North of Britain.

PMID 26161358 2015 This was the first case report in Korea of the clinicopathological characteristics of GNE myopathy with GNE (c.1714G>C/c.527A>T compound heterozygous) mutation.

PMID 17704511 2007 We therefore generated a transgenic mouse that expressed the human GNE D176V mutation, which is one of the most prevalent mutations among Japanese DMRV patients, and crossed this with Gne(+/-) mice to obtain Gne(-/-)hGNED176V-Tg.

PMID 17718674 2007 Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy.

PMID 14733963 2004 A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins.

PMID 25303967 2014 Nationwide patient registry for GNE myopathy in Japan.

PMID 22196754 2011 Eighteen mutations in GNE gene were identified. c.317T>C (p.I106T) was a novel GNE gene mutation. c.1892C>T (p.A631V), c.527A>T (p.D176V) and c.1523T>C (p.L508S) were the common GNE mutations in Chinese DMRV patients.

PMID 25123033 2014 Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.

PMID 22196754 2011 Eighteen mutations in GNE gene were identified. c.317T>C (p.I106T) was a novel GNE gene mutation. c.1892C>T (p.A631V), c.527A>T (p.D176V) and c.1523T>C (p.L508S) were the common GNE mutations in Chinese DMRV patients.

PMID 22343627 2012 Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activity and inhibition.

PMID 15987957 2005 Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

PMID 22507750 2012 Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.

PMID 21307865 2011 In the present eight patients with DMRV, direct sequencing analysis revealed one homozygous mutation of c.1760T>C (p.I587T) and seven compound heterozygous mutations in the GNE gene.

PMID 26231298 2015 GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.

PMID 20300792 2010 The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.

PMID 27858732 2015 Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.

PMID 22196754 2011 Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.

PMID 28641925 2017 Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.

PMID 15834044 2005 Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy.

PMID 16810679 2006 We herein report four Thai patients with DMRV who carried compound heterozygous mutations of the GNE gene including three novel (p.G89R, p.P511T, and p.I656N) and two known mutations (p.A524V and p.V696M).

PMID 18555875 2008 [Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].

PMID 28099567 2017 Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.

PMID 12811782 2003 Two sisters affected with autosomal-recessive h-IBM were shown to be compound heterozygous for two novel GNE mutations: a large deletion involving exons 1-9, and a R162C amino acid change in the epimerase domain.

PMID 14972325 2004 Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.

PMID 25617006 2015 Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.

PMID 17698786 2007 GNE protein expression and subcellular distribution are unaltered in HIBM.

rs1057516657 in GNE;CLTA gene and NONAKA MYOPATHY PMID 24737350 2014 A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia.

PMID 15330759 2004 Domain-specific characteristics of the bifunctional key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.

PMID 23437777 2013 Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.

PMID 12473753 2002 Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.

PMID 12325084 2002 A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.

PMID 11916006 2002 Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).

PMID 12497639 2003 Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

PMID 12913203 2003 GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.

PMID 12473780 2002 An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.

PMID 12473769 2002 GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.

PMID 11528398 2001 The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

PMID 12409274 2002 Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).

PMID 12177386 2002 Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.

PMID 12811782 2003 Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

PMID 15146476 2004 Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

PMID 11916006 2002 Sequence and haplotype analyses of GNE in two siblings with Nonaka myopathy from a Japanese family revealed that both patients were compound heterozygotes for a C-->T transition (A460V) in exon 8 and a G-->C transition (V572L) in exon 10.

PMID 12325084 2002 To investigate whether DMRV and HIBM are allelic diseases, we conducted mutational analysis of the GNE gene of six Japanese DMRV pedigrees and found that all the pedigrees share a homozygous mutation (V572L) associated with a strong linkage disequilibrium, suggesting a strong founder effect in Japanese DMRV pedigrees.

PMID 11916006 2002 Sequence and haplotype analyses of GNE in two siblings with Nonaka myopathy from a Japanese family revealed that both patients were compound heterozygotes for a C-->T transition (A460V) in exon 8 and a G-->C transition (V572L) in exon 10.

PMID 24027297 2014 Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).

PMID 25986339 2015 Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.

PMID 27858732 2015 Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.

PMID 24005727 2014 GNE myopathy in India.

PMID 15136692 2004 Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.

PMID 14707127 2004 Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.

PMID 25978849 2015 Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy.

PMID 16503651 2006 Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.

PMID 15670773 2005 No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.

PMID 23278550 2013 Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.

PMID 20300792 2010 The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.

PMID 15147877 2004 The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy.

PMID 18555875 2008 [Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].

PMID 24695763 2014 Two recurrent mutations are associated with GNE myopathy in the North of Britain.

PMID 19917666 2010 Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.

PMID 16372135 2006 Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.

PMID 22507750 2012 Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.

PMID 23127962 2013 Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles).

PMID 20059379 2010 Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.

PMID 22231866 2012 Muscle imaging findings in GNE myopathy.

PMID 24796702 2014 Mutation update for GNE gene variants associated with GNE myopathy.

PMID 24136589 2014 Non-specific accumulation of glycosphingolipids in GNE myopathy.

PMID 20346669 2010 Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.

PMID 26231298 2015 GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.

PMID 21307865 2011 Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.

PMID 15987957 2005 Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.