Diagnosing Friedreich's ataxia.

doi:10.1136/adc.78.3.204

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Article

Diagnosing Friedreich's ataxia.

Archives of disease in childhood - 1 Mar 1998

Wood N W

Abstract excerpt

Clinical diagnosis is still of the utmost importance and following our review of cases diagnosed using the strict criteria, 100% were homozygous for the expansion. However, now that there is a relatively simple direct genetic test, the diagnosis can be considered in more unusual cases. Genetic testing has been shown to be of value in establishing the correct diagnosis and in directing the appropriate screening...

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PMID: 9613347
DOI: 10.1136/adc.78.3.204
PMCID: PMC1717493

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

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