Confirmation of biallelic <i>VPS11</i> variants as a cause of complex dystonic syndrome.

ABSTRACT: •VPS11 is associated with hypomyelinated leukodystrophy affecting children.•A single case of adult-onset generalized dystonia was reported.•We provide the first replication by describing a second case of complex dystonia related to biallelic variants in VPS11.

SUBMITTER: Storck A 

PROVIDER: S-EPMC12808586 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature