Parkinson disease 6, early onset
OMIM:605909Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | PINK1 |
|---|---|
| Reference transcript | NM_032409.2 |
| DNA Change | c.1617G>C |
| A.A. Change | p.Leu539Phe |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Ben El Haj R, Regragui W, Tazi-Ahnini R, Skalli A, Bouslam N, Benomar A, Yahyaoui M, Bouhouche A.
A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism. Biomed Res Int. 2016;2016:3460234. doi: 10.1155/2016/3460234. Epub 2016 Jun 20. |