OMIM: 256600Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | PLA2G6 |
|---|
| Dna Change: | c.2071_2073delGTC |
|---|
| Protein Change: | p.Val691del |
|---|
| Mutation Type: | Deletion |
|---|
| Mutation Effect: | |
|---|
| Location: | exon 15 |
|---|
| Transcript: | NM_003560.2 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Libya | NA | NA | 1 family | 12 generations | Romani M et al., 2014Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N, . Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.. Eur. J. Neurol.. 2014; 0(0): |
| Tunisia | NA | NA | 5 families (8 patients)/11 families | 12 generations | Romani M et al., 2014Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N, . Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.. Eur. J. Neurol.. 2014; 0(0): |
References
Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N, Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.Eur. J. Neurol.. 2014; 0(0):