|
rs121908632
|
|
|
0.840 |
GeneticVariation |
BEFREE |
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
|
17164266 |
2007 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
BEFREE |
The identification of a homozygous c. 1714G>C (p. V572L) mutation in the GNE gene genetically confirmed the diagnosis of DMRV, which is thought to be identical to hereditary inclusion body myopathy (HIBM).
|
16503389 |
2006 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
|
15146476 |
2004 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
|
12811782 |
2003 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
|
12497639 |
2003 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
|
12913203 |
2003 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
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.
|
11916006 |
2002 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
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.
|
12325084 |
2002 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
BEFREE |
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.
|
12325084 |
2002 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
BEFREE |
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.
|
11916006 |
2002 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
|
12409274 |
2002 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
|
12177386 |
2002 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
|
12473769 |
2002 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
|
12473753 |
2002 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
|
12473780 |
2002 |
|
rs121908632
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
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 |
|
|
|