Gene: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; GNE


Gene Symbol: GNE
OMIM: 603824
Chromosome location: 9p13.3

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Inclusion body myopathy, autosomal recessive || c.2135T>C

Phenotype:    Inclusion body myopathy, autosomal recessive
Dna Change:    c.2135T>C
Protein Change:    p.Met712Thr
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 12
Transcript:    NM_005476.5

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
EgyptMuslimNA1 patientNAGrandis M et al., 2010Grandis M, Gulli R, Cassandrini D, Gazzerro E, Benedetti L, Narciso E, Nobbio L, Bruno C, Minetti C, Bellone E, Reni L, Mancardi GL, Mandich P, Schenone A, . The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.. Neurol. Sci.. 2010; 31(3):377-80
EgyptMuslimNA1 patientNAGrandis M et al., 2010Grandis M, Gulli R, Cassandrini D, Gazzerro E, Benedetti L, Narciso E, Nobbio L, Bruno C, Minetti C, Bellone E, Reni L, Mancardi GL, Mandich P, Schenone A, . The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.. Neurol. Sci.. 2010; 31(3):377-80
PalestineNAMuslim ArabNANAArgov Z et al., 2003Argov Z, Eisenberg I, Grabov-Nardini G, Sadeh M, Wirguin I, Soffer D, Mitrani-Rosenbaum S, . Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.. Neurology. 2003; 60(9):1519-23
TunisiaNANA1 familyNAAmouri R et al., 2005Amouri R, Driss A, Murayama K, Kefi M, Nishino I, Hentati F, . Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy.. Neuromuscul. Disord.. 2005; 15(5):361-3

References

Amouri R, Driss A, Murayama K, Kefi M, Nishino I, Hentati F, Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy.Neuromuscul. Disord.. 2005; 15(5):361-3

Argov Z, Eisenberg I, Grabov-Nardini G, Sadeh M, Wirguin I, Soffer D, Mitrani-Rosenbaum S, Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.Neurology. 2003; 60(9):1519-23

Grandis M, Gulli R, Cassandrini D, Gazzerro E, Benedetti L, Narciso E, Nobbio L, Bruno C, Minetti C, Bellone E, Reni L, Mancardi GL, Mandich P, Schenone A, The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.Neurol. Sci.. 2010; 31(3):377-80