Torsion dystonia type 30. Clinical observation. Case report

• Main Authors: Artur Sh. Latypov (Author), Sergey V. Kotov (Author), Elena V. Proskurina (Author), Olga P. Sidorova (Author), Ekaterina S. Novikova (Author), Irina A. Vasilenko (Author), Darya V. Cassina (Author)
• 格式: 圖書
• 出版: ZAO "Consilium Medicum", 2023-05-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

A 58-year-old patient with type 30 dystonia (OMIM619291) detected by genome-wide sequencing was described. A variant of rs778751388, not previously described in the literature, has been identified in the heterozygous state in exon 2 of 24 of the VPS16 gene, leading to the amino acid substitution of...