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Article

[Late-Onset Cerebellar Ataxia with Neuropathy: Uncovering the Role of RFC1 Gene Mutations].

Revista medica de Chile - 1 Apr 2023

Miranda C Marcelo, Diaz Mario, Hughes G Ricardo, Barreto Y Mariana, Nakousi C Nicole, Campero S Mario

Abstract excerpt

We report two unrelated patients with late-onset cerebellar ataxia associated with neuropathy and a long-standing dry cough. One patient had two siblings affected with sensory neuropathy and cough. Both probands had extensive investigations including genetics testing negative for most common ataxias as well as testing for paraneoplasic and other immunologic causes. Both patients showed an abnormal intronic...

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Identifiers

PMID: 38687529
DOI: 10.4067/s0034-98872023000400524

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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