POLR3A-related spastic ataxia: new mutations and a look into the phenotype
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DOI: 10.1007/s00415-019-09574-9
Abstract: Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.1909 + 22G > A) in the POLR3A gene. Here, we present ten new cases of POLR3A-related spastic ataxia and discuss the genetic,… read more here.
Keywords: new mutations; spastic ataxia; polr3a related; ataxia new ... See more keywords