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Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

Most patients with a rare movement disorder (MD) do not receive a molecular diagnosis, and the underlying genetic variants and mediating genes remain elusive. Here, we evaluate the diagnostic accuracy of conventional and next-generation sequencing-based genetic testing strategies in a cohort of 2,811…
[London]: Springer Nature, 2026-02-14