Article

Heterozygous and Homozygous <i>RFC1 AAGGG</i> Repeat Expansions are Common in Idiopathic Peripheral Neuropathy

2025-04-22

Abstract excerpt

<h4>Objective</h4> Biallelic intronic AAGGG repeat expansions in RFC1 cause Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome and may also contribute to isolated sensory neuropathy. The clinical significance of both heterozygous and biallelic RFC1 expansions in more diverse patient populations remains unclear—partly due to the absence of accurate, user-friendly computational pipelines specifical...

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Literature Corpus work: d888794c-68d4-5548-a56f-cce6b5fabd04
DOI: 10.1101/2025.04.18.25325809

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