DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability

Abstract Familial parkinson's disease is both clinically and genetically heterogeneous. By mapping the disease locus with a lod score of 5.13 to a  

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Bibliographic Details
Published in:Parkinsonism & related disorders 2013-03, Vol.19 (3), p.320-324
Main Authors: Köroğlu, Çiğdem, Baysal, Leyla, Cetinkaya, Murat, Karasoy, Hatice, Tolun, Aslhan
Format: Article
Language:English
Subjects:
Adolescent
Adult
Consanguinity
DNA Mutational Analysis
DNAJC6
Epilepsy
Female
Genetic Predisposition to Disease - genetics
Genotype
HSP40 Heat-Shock Proteins - genetics
Humans
Juvenile parkinsonism
Male
Mental retardation
Mutation
Neurology
Parkinsonian Disorders - genetics
Pedigree
Phenotype
Recessive parkinsonism
Young Adult
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Description
Summary:Abstract Familial parkinson's disease is both clinically and genetically heterogeneous. By mapping the disease locus with a lod score of 5.13 to a  
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2012.11.006