Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.

Research output: Contribution to journalArticle

Abstract

Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA).

Details

Authors
Organisations
External organisations
  • University of Copenhagen
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Neurology
Original languageEnglish
Pages (from-to)919-923
JournalParkinsonism & Related Disorders
Volume20
Issue number8
Publication statusPublished - 2014
Publication categoryResearch
Peer-reviewedYes

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