|
NONAKA MYOPATHY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
|
25986339 |
2015 |
|
NONAKA MYOPATHY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
|
24027297 |
2014 |
|
NONAKA MYOPATHY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.
|
23549799 |
2013 |
|
NONAKA MYOPATHY
|
|
0.800 |
CausalMutation
|
CLINVAR |
[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].
|
18555875 |
2008 |
|
NONAKA MYOPATHY
|
|
0.800 |
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 |
|
NONAKA MYOPATHY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
|
14707127 |
2004 |
|
NONAKA MYOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
|
15146476 |
2004 |
|
NONAKA MYOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
|
12811782 |
2003 |
|
NONAKA MYOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
|
12913203 |
2003 |
|
NONAKA MYOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
|
12497639 |
2003 |
|
NONAKA MYOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
|
12473780 |
2002 |
|
NONAKA MYOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
|
12409274 |
2002 |
|
NONAKA MYOPATHY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
|
12409274 |
2002 |
|
NONAKA MYOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
|
12177386 |
2002 |
|
NONAKA MYOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
|
12473753 |
2002 |
|
NONAKA MYOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
|
11916006 |
2002 |
|
NONAKA MYOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
|
12325084 |
2002 |
|
NONAKA MYOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
|
12473769 |
2002 |
|
NONAKA MYOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
|
11528398 |
2001 |
|
NONAKA MYOPATHY
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|