Title : Monozygotic twins with DYT-TOR1A showing jerking movements and levodopa responsiveness.

Pub. Date : 2021 Aug

PMID : 33832800






4 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 BACKGROUND: DYT-TOR1A is caused by a GAG deletion in the TOR1A gene. Glycosaminoglycans torsin family 1 member A Homo sapiens
2 BACKGROUND: DYT-TOR1A is caused by a GAG deletion in the TOR1A gene. Glycosaminoglycans torsin family 1 member A Homo sapiens
3 Whole exome sequencing eventually revealed a single GAG deletion in the TOR1A gene. Glycosaminoglycans torsin family 1 member A Homo sapiens
4 CONCLUSION: Monozygotic twins whose only mutation was a GAG deletion in TOR1A exhibited DYT/PARK-GCH1-asssociated features and jerking movements reminiscent of myoclonus. Glycosaminoglycans torsin family 1 member A Homo sapiens