Gene Symbol: CHRNE
OMIM: 100725Chromosome location: 17p13.2
Related informations:  
NCBI Gene  
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Ensembl  
UniProt  
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Kyoto Encyclopedia  
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HPRD  
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