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

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Author

Summary, in English

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

Publishing year

2014

Language

English

Pages

919-923

Publication/Series

Parkinsonism & Related Disorders

Volume

20

Issue

8

Document type

Journal article

Publisher

Elsevier

Topic

  • Neurology

Status

Published

Research group

  • Clinical Neurogenetics

ISBN/ISSN/Other

  • ISSN: 1873-5126