Variant: rs28937594 

    present in Gene: GNE;CLTA
    present in Chromosome: 9
    Position on Chromosome: 36217399
    Alleles of this Variant: A/G

rs28937594 in GNE;CLTA gene and NONAKA MYOPATHY PMID 15670773 2005 No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.

PMID 23278550 2013 Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.

PMID 20300792 2010 The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.

PMID 11916006 2002 Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).

PMID 12811782 2003 Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

PMID 12497639 2003 Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

PMID 12473769 2002 GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.

PMID 12473780 2002 An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.

PMID 11528398 2001 The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

PMID 15146476 2004 Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

PMID 12325084 2002 A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.

PMID 15147877 2004 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.

PMID 12409274 2002 Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).

PMID 12913203 2003 GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.

PMID 12473753 2002 Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.

PMID 12177386 2002 Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.

rs28937594 in GNE;CLTA gene and Sialuria PMID 20300792 2010 The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.

PMID 23278550 2013 Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.

PMID 15147877 2004 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.

PMID 11528398 2001 The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

PMID 15670773 2005 No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.