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Article

Friedreich's ataxia: a clinical and genetic analysis.

Clinical neurology and neurosurgery - 1 Feb 2007

Reddy P Leema, Grewal Raji P

Abstract excerpt

We report a patient with genetically confirmed Friedreich's ataxia (FRDA) who developed a previously unreported feature of a mixed sleep apnea. Initial mutation analysis, by PCR, of the parental frataxin alleles showed an apparent de novo mutation in the maternal germline. Further investigation using Southern blot analysis showed that the mother did carry an expanded mutant frataxin allele. Based upon published...

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Source

Identifiers

PMID: 17049722
DOI: 10.1016/j.clineuro.2006.09.003

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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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