rs28937594
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.
|
23278550 |
2013 |
rs28937594
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
|
20300792 |
2010 |
rs28937594
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
|
15670773 |
2005 |
rs28937594
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
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.
|
15147877 |
2004 |
rs28937594
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
|
11528398 |
2001 |
rs121908632
|
|
G |
0.840 |
CausalMutation |
CLINVAR |
|
|
|
rs139425890
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
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.
|
26161358 |
2015 |
rs139425890
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
|
25986339 |
2015 |
rs139425890
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
|
24027297 |
2014 |
rs139425890
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Nationwide patient registry for GNE myopathy in Japan.
|
25303967 |
2014 |
rs139425890
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
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.
|
22196754 |
2011 |
rs139425890
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
|
19917666 |
2010 |
rs139425890
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
|
19917666 |
2010 |
rs139425890
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
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.
|
17704511 |
2007 |
rs139425890
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy.
|
17718674 |
2007 |
rs139425890
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
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.
|
14733963 |
2004 |
rs139425890
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.
|
15136692 |
2004 |
rs139425890
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
|
14707127 |
2004 |
rs139425890
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
|
12473753 |
2002 |
rs139425890
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
|
12473753 |
2002 |
rs121908627
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
|
27829678 |
2017 |
rs121908627
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
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.
|
28717665 |
2017 |
rs769215411
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.
|
28099567 |
2017 |
rs121908627
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
GNE myopathy: current update and future therapy.
|
25002140 |
2015 |
rs748949603
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.
|
27858732 |
2015 |