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Article

Early-onset cerebellar ataxia in a patient with CMT2A2.

Cold Spring Harbor molecular case studies - 1 Jun 2020

Madrid Ricardo, Guariglia Sara R, Haworth Andrea, Korosh William, Gavin Maureen, Lyon Gholson J

Abstract excerpt

A 9-yr 8-mo-old right-handed female presented with a history of gait difficulties, which first became apparent at age 9 mo of age, along with slurred speech and hand tremors while holding a tray. Her past medical history was significant for global developmental delay, and she was attending fourth grade special education classes. On examination, she had an ataxic gait, dysarthria, absent deep tendon reflexes, and...

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Identifiers

PMID: 32532879
DOI: 10.1101/mcs.a005108
PMCID: PMC7304361

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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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