Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia
Copyright policy )Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by attacks of dystonia or chorea lasting minutes to hours. Recently, mutations in the myofibrillogenesis regulator 1 gene (MR-1) have been identified in 10 unrelated PNKD kindreds. The authors describe a Canadian PNKD family who does not have mutations in the MR-1 gene and links to a separate locus at 2q31. This indicates that there are at least two different genes responsible for PNKD.
- University of British Columbia Canada
- St. Paul's Hospital Canada
Male, Canada, Glutamate Decarboxylase, DNA Mutational Analysis, Chromosome Mapping, Muscle Proteins, Pedigree, Europe, Isoenzymes, Genetic Heterogeneity, Phenotype, Haplotypes, Chorea, Chromosomes, Human, Pair 2, Humans, Female, Lod Score, Microsatellite Repeats
Male, Canada, Glutamate Decarboxylase, DNA Mutational Analysis, Chromosome Mapping, Muscle Proteins, Pedigree, Europe, Isoenzymes, Genetic Heterogeneity, Phenotype, Haplotypes, Chorea, Chromosomes, Human, Pair 2, Humans, Female, Lod Score, Microsatellite Repeats
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