| Phenotype: | Charcot-Marie-Tooth disease, type 2A2 |
|---|---|
| Dna Change: | c.1148C>T |
| Protein Change: | p.Ala383Val |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 11 |
| Transcript: | NM_014874.3 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Italy | NA | Southern | 2 unrelated families/2 unrelated families | NA | Muglia M et al., 2009Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML, . A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.. BMJ Case Rep. 2009; 2009(0): |
| Italy | NA | Southern | 2 families | NA | Muglia M et al., 2007Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML, . A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.. J. Neurol. Neurosurg. Psychiatr.. 2007; 78(11):1286-7 |
Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML, A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.BMJ Case Rep. 2009; 2009(0):
Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML, A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.J. Neurol. Neurosurg. Psychiatr.. 2007; 78(11):1286-7