Movement Disorders · 2007 · 42 citations · 17 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsGene MappingGenetic DisordersGenetic Fine-mappingMendelian Neurological DisordersMovement Disorder GeneticsNeurodevelopmental GeneticsAutosomal Dominant InheritanceGenomic DisordersLocus ArchitectureSingle-nucleotide Polymorphisms
Inherited myoclonus dystonia (MD) is an autosomal dominant disorder in which we previously mapped a novel locus to chromosome18p11 (OMIM number: 607488). Since no further informative STS markers were found within the flanking shared regions, we utilized single nucleotide polymorphisms (SNP) for fine-mapping. All known or predicted genes within this region were directly sequenced. We identified three recombinant SNPs in the distal region but none from the proximal region. Our previous linked region has now been reduced to 3.18 Mb but direct sequencing of all seven known and four predicted genes with EST support did not identify any mutations..
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