A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal recessive juvenile-onset Parkinson disease. Elsayed et al, Ann Neurol 2016

Elsayed LE, Drouet V, Usenko T, Mohammed IN, Hamed AA, Elseed MA, Salih MA, Koko ME, Mohamed AY Siddig RA, Elbashir MI, Ibrahim ME, Durr A, Stevanin G, Lesage S, Ahmed AE, Brice A. A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal recessive juvenile-onset Parkinson disease. Ann Neurol 2016 (advance online 2015 dec 24).

 

This article reports a new DNAJC6 mutation in Juvenile-onset Parkinson disease in a patient of Sudanese ancestry.

 

LINK to the online manuscript: http://onlinelibrary.wiley.com/doi/10.1002/ana.24591/abstract

 

DNAJC6

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