Torsion dystonia type 30. Clinical observation. Case report

• Auteurs principaux: Artur Sh. Latypov (Auteur), Sergey V. Kotov (Auteur), Elena V. Proskurina (Auteur), Olga P. Sidorova (Auteur), Ekaterina S. Novikova (Auteur), Irina A. Vasilenko (Auteur), Darya V. Cassina (Auteur)
• Format: Livre
• Publié: ZAO "Consilium Medicum", 2023-05-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...