Parkinson disease 8
OMIM:607060Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | LRRK2 |
|---|---|
| Reference transcript | NM_198578.3 |
| DNA Change | c.6055G>A |
| A.A. Change | p.Gly2019Ser |
| Exon/Intron | exon 41 |
| Mutation Type | substitution |
| Reference | Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, Durr A, Tazir M, Wszolek ZK, Uitti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, Foroud TM, Farrer MJ, Brice A, Middleton L, Hentati F.Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Arch Neurol. 2006 Sep;63(9):1250-4. |