Gene: cholinergic receptor, nicotinic, epsilon (muscle); CHRNE


Gene Symbol: CHRNE
OMIM: 100725
Chromosome location: 17p13.2

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Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency || c.1293_1294insG

Phenotype:    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Dna Change:    c.1293_1294insG
Protein Change:    p.Glu432GlyfsX24
Mutation Type:    Indel
Mutation Effect:    Frameshift
Location:    exon 11
Transcript:    NM_000080.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
AlgeriaNANA14 families/23 North African familiesNARichard 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
LibyaNANA14 families/23 North African familiesNARichard 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
MoroccoNANA14 families/23 North African familiesNARichard 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
TunisiaNANA14 families/23 North African familiesNARichard 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