RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.

David PellerinFelix HeindlAndreas TraschützDan RujescuAnnette M HartmannBernard BraisHenry HouldenClaudia DufkeOlaf RiessTobias HaackMichael StruppMatthis Synofzik

Published in: Journal of neurology (2024)

Biallelic RFC1 expansions are a common monogenic cause of DBN syndrome.

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