Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).

Eiberg, H; Hansen, L; Korbo, L; Nielsen, I M; Svenstrup, K; Bech, S; Pinborg, L H; Friberg, L; Hjermind, L E; Olsen, O R; Nielsen, J E

Eiberg, H; Hansen, L; Korbo, L; Nielsen, I M; Svenstrup, K; Bech, S; Pinborg, L H; Friberg, L; Hjermind, L E; Olsen, O R; Nielsen, J E.

Affiliation

Eiberg H; Department of Cellular and Molecular Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark. he@sund.ku.dk

Clin Genet ; 82(3): 256-63, 2012 Sep.

Article in En | MEDLINE | ID: mdl-21696388

Subject(s)

Mutation; Parkinsonian Disorders/genetics; Proton-Translocating ATPases/genetics; Adult; Brain/pathology; Genotype; Greenland; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Nonsense Mediated mRNA Decay; Parkinsonian Disorders/enzymology; Phenotype; Proton-Translocating ATPases/metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proton-Translocating ATPases / Parkinsonian Disorders / Mutation Limits: Adult / Humans / Male / Middle aged Country/Region as subject: America do norte / Europa Language: En Journal: Clin Genet Year: 2012 Type: Article Affiliation country: Denmark

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