×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
CausalMutation
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
NONAKA MYOPATHY
0.100
GeneticVariation
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
NONAKA MYOPATHY
0.100
GeneticVariation
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
NONAKA MYOPATHY
0.100
CausalMutation
CLINVAR
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
12473753 2002
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
CausalMutation
CLINVAR
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
12409274 2002
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
CausalMutation
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
NONAKA MYOPATHY
0.100
GeneticVariation
CLINVAR
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
12409274 2002
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
CausalMutation
CLINVAR
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
12177386 2002
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
GeneticVariation
CLINVAR
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
12473753 2002
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
GeneticVariation
CLINVAR
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
12811782 2003
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
CausalMutation
CLINVAR
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
12497639 2003
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
GeneticVariation
CLINVAR
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
12497639 2003
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
GeneticVariation
CLINVAR
Domain-specific characteristics of the bifunctional key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.
15330759 2004
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
GeneticVariation
CLINVAR
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.
15136692 2004
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
GeneticVariation
CLINVAR
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
15146476 2004
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
GeneticVariation
CLINVAR
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
14972325 2004
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
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
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
CausalMutation
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
NONAKA MYOPATHY
0.100
CausalMutation
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
NONAKA MYOPATHY
0.100
GeneticVariation
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
NONAKA MYOPATHY
0.100
CausalMutation
CLINVAR
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.
15136692 2004
×
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
NONAKA MYOPATHY
0.100
GeneticVariation
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
NONAKA MYOPATHY
0.100
CausalMutation
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
NONAKA MYOPATHY
0.100
CausalMutation
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
NONAKA MYOPATHY
0.100
GeneticVariation
CLINVAR
Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy.
15834044 2005