A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient

The Lancet Neurology

Volumn 7, Issue 5, 2008, Pages 380-381

  Seibler, Philip ^a   Djarmati, Ana ^a   Langpap, Brigitte ^a   Hagenah, Johann ^a   Schmidt, Alexander ^a   Brüggemann, Norbert ^a   Siebner, Hartwig ^a   Jabusch, Hans Christian ^a   Altenmüller, Eckart ^a   Münchau, Alexander ^a   Lohmann, Katja ^a   Klein, Christine ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; DYSTONIA; EXON; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INTRON; LETTER; LIMB; MALE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRIORITY JOURNAL; PRKRA GENE; SCHOOL CHILD;

DYSTONIA; FRAMESHIFT MUTATION; GERMANY; HETEROZYGOTE; HUMANS; RNA-BINDING PROTEINS;

EID: 41949113299     PISSN: 14744422     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1474-4422(08)70075-9     Document Type: Letter

References (2)

1. Camargos S., Scholz S., Simon-Sanchez J., et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress response protein PRKRA. Lancet Neurol 7 (2008) 207-215
2. Klein C., Lohmann-Hedrich K., Rogaeva E., et al. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 6 (2007) 652-662