|
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 |
|
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 |
GNE myopathy: current update and future therapy.
|
25002140 |
2015 |
|
rs121908627
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
GNE myopathy in India.
|
24005727 |
2014 |
|
rs121908627
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Atypical presentation of GNE myopathy with asymmetric hand weakness.
|
25182749 |
2014 |
|
rs121908627
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Mutation update for GNE gene variants associated with GNE myopathy.
|
24796702 |
2014 |
|
rs121908627
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.
|
23437777 |
2013 |
|
rs121908627
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.
|
23549799 |
2013 |
|
rs121908627
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
|
21708040 |
2011 |
|
rs121908627
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
|
21708040 |
2011 |
|
rs121908627
|
|
|
0.810 |
GeneticVariation |
BEFREE |
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.
|
20175955 |
2010 |
|
rs121908627
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
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.
|
20175955 |
2010 |
|
rs121908627
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
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).
|
16810679 |
2006 |
|
rs121908627
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
|
15146476 |
2004 |
|
rs121908627
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
|
12497639 |
2003 |
|
rs121908627
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
|
12811782 |
2003 |
|
rs121908627
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
|
12497639 |
2003 |
|
rs121908627
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
|
12913203 |
2003 |
|
rs121908627
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
|
12325084 |
2002 |
|
rs121908627
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
|
11916006 |
2002 |
|
rs121908627
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
|
12409274 |
2002 |
|
rs121908627
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
|
12473769 |
2002 |
|
rs121908627
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
|
12473780 |
2002 |
|
rs121908627
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
|
12177386 |
2002 |
|
rs121908627
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
|
12473753 |
2002 |