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Article

A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 1999

Webb S, Doudney K, Pook M, Chamberlain S, Hutchinson M

Abstract excerpt

A family with pseudodominant Friedreich's ataxia is described showing marked variation of phenotype between affected siblings. The mother of this family (III-3) developed a spastic ataxic tetraplegia with neuropathy at 34 years of age; her husband, who was unrelated, was clinically normal. Of their nine children, two (IV-2, IV-3), including one with multiple sclerosis (IV-3), developed a mild spinocerebellar...

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Identifiers

PMID: 10406994
DOI: 10.1136/jnnp.67.2.217
PMCID: PMC1736476

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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