Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

This comprehensive MDSGene review is devoted to 7 genes — TOR1A , THAP1 , GNAL , ANO3 , PRKRA , KMT2B , and HPCA — mutations in which may cause isolated dystonia. It followed MDSGene's standardized data extraction protocol and screened a total of ~1200 citations. Phenotypic and genotypic data on ~1200 patients with 254 different mutations were curated and analyzed. There were differences regarding age at onset, site of onset, and distribution of...