FMR1 and autosomal dominant cerebellar ataxia: In summary, we have demonstrated the more immediate applications of MS-QMA for thedetection of skewed XCI at the FMR1 locus and in different types of SCA.However, the method has potential for any application where quantitative detection of evensmall changes in the genomic position and the amount of locus specific methylation is ofdiagnostic or prognostic significance because of mosaicism in the methylation state withinand between different cell types (Ref.