Expanding the genotypic and phenotypic spectrum of DYT-TSPOAP1: First report from India
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Pathogenic variants in TSPOAP1, encoding RIMBP1, cause ultra-rare autosomal recessive dystonia (DYT-TSPOAP1/DYT-22), with only two reports worldwide. Clinical features include upper-segment-predominant dystonia, intellectual disability, eye movement abnormalit... ...
