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Article

Pseudodominant Friedreich's ataxia with phenotypic heterogeneity.

Acta neurologica Scandinavica - 1 May 2007

Panas M, Kalfakis N, Vassilopoulos D

Abstract excerpt

OBJECTIVE: A family with a clinically heterogeneous progressive ataxia in two generations is presented. METHODS: Having eliminated mutations within the known dominant spinocerebellar ataxia genes, the family was investigated for expansion at the Friedreich's gene. RESULTS: The affected members (f...

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Identifiers

PMID: 17489949
DOI: 10.1111/j.1600-0404.2007.00734.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17489949-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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