|
rs139425890
|
|
|
0.820 |
GeneticVariation |
BEFREE |
GNE myopathy may be overlooked in China with a relatively milder phenotype due to the common mutation D207V.
|
30390020 |
2019 |
|
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 |
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 |
Nationwide patient registry for GNE myopathy in Japan.
|
25303967 |
2014 |
|
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 |
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 |
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 |
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 |
Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy.
|
17718674 |
2007 |
|
rs139425890
|
|
|
0.820 |
GeneticVariation |
BEFREE |
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
|
17704511 |
2007 |
|
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
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
|
15146476 |
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 |
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
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
|
12913203 |
2003 |
|
rs139425890
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
|
12811782 |
2003 |
|
rs139425890
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
|
12497639 |
2003 |
|
rs139425890
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
|
12325084 |
2002 |
|
rs139425890
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
|
12473769 |
2002 |
|
rs139425890
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
|
12409274 |
2002 |
|
rs139425890
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
|
11916006 |
2002 |
|
rs139425890
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
|
12473780 |
2002 |
|
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 |