Torsion dystonia type 30. Clinical observation. Case report
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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ZAO "Consilium Medicum"
2023-05-01
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| Series: | Consilium Medicum |
| Subjects: | |
| Online Access: | https://consilium.orscience.ru/2075-1753/article/viewFile/321389/pdf |