OMIM: 608931Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CHRNE |
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| Dna Change: | c.1293_1294insG |
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| Protein Change: | p.Glu432GlyfsX24 |
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| Mutation Type: | Indel |
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| Mutation Effect: | Frameshift |
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| Location: | exon 11 |
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| Transcript: | NM_000080.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Algeria | NA | NA | 14 families/23 North African families | NA | Richard P et al., 2008Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D, . The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.. Neurology. 2008; 71(24):1967-72 |
| Libya | NA | NA | 14 families/23 North African families | NA | Richard P et al., 2008Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D, . The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.. Neurology. 2008; 71(24):1967-72 |
| Morocco | NA | NA | 14 families/23 North African families | NA | Richard P et al., 2008Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D, . The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.. Neurology. 2008; 71(24):1967-72 |
| Tunisia | NA | NA | 14 families/23 North African families | NA | Richard P et al., 2008Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D, . The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.. Neurology. 2008; 71(24):1967-72 |
References
Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D, The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.Neurology. 2008; 71(24):1967-72