×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
11528398
2001
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
11528398
2001
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
12473753
2002
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
12473769
2002
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
12409274
2002
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
12497639
2003
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
12497639
2003
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
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
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
14707127
2004
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
15670773
2005
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
15987957
2005
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.
16810679
2006
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
16503651
2006
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.
20059379
2010
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
20300792
2010
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.
20175955
2010
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.
22196754
2011
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
21708040
2011
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.
21307865
2011
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
21708040
2011
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
22507750
2012
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.
23278550
2013
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.
23437777
2013
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.
23549799
2013
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
24695763
2014