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Article

Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman.

Neuro endocrinology letters - 1 Feb 2005

Zumrová Alena, Mazanec Radim, Vyhnálek Martin, Krepelová Anna, Musová Zuzana, Krilová Stefanie, Appltová Ludmila, Havlovicová Markéta

Abstract excerpt

DNA testing broadens diagnostic tools available for hereditary ataxias. However, together with current knowledge of genes and their mutations crop up new phenotype figures of diseases already well known. Diagnostic problems in practice can consist in part due to the very similar symptoms of hereditary ataxias and acquaintance in or availability of new techniques such as DNA testing and result in misdiagnosis. We...

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PMID: 15726025

Genes

FMR1

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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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