OMIM: 600737Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | GNE |
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| Dna Change: | c.2135T>C |
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| Protein Change: | p.Met712Thr |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 12 |
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| Transcript: | NM_005476.5 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Egypt | Muslim | NA | 1 patient | NA | Grandis 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 |
| Egypt | Muslim | NA | 1 patient | NA | Grandis 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 |
| Palestine | NA | Muslim Arab | NA | NA | Argov 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 |
| Tunisia | NA | NA | 1 family | NA | Amouri 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