Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort
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DOI: 10.1007/s00415-021-10499-5
Abstract: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogenic AAGGG(n) biallelic expansion repeat in the RFC1… read more here.
Keywords: expansion; ataxia; cohort; biallelic rfc1 ... See more keywords