POLG mutations presenting as Charcot-Marie-Tooth disease

Jade Phillips, Steve Courel, Adriana P. Rebelo, Dana M. Bis-Brewer, Tanya Bardakjian, Lois Dankwa, Ali G. Hamedani, Stephan Züchner, Steven S. Scherer

Research output: Contribution to journal › Article

3 Scopus citations

Abstract

We report on two patients, with different POLG mutations, in whom axonal neuropathy dominated the clinical picture. One patient presented with late onset sensory axonal neuropathy caused by a homozygous c.2243G>C (p.Trp748Ser) mutation that resulted from uniparental disomy of the long arm of chromosome 15. The other patient had a complex phenotype that included early onset axonal Charcot-Marie-Tooth disease (CMT) caused by compound heterozygous c.926G>A (p.Arg309His) and c.2209G>C (p.Gly737Arg) mutations.

Original languageEnglish (US)
Pages (from-to)213-218
Number of pages6
JournalJournal of the Peripheral Nervous System
Volume24
Issue number2
DOIs
StatePublished - Jun 2019

Keywords

  • mitochondria
  • neuropathy
  • uniparental disomy

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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    Phillips, J., Courel, S., Rebelo, A. P., Bis-Brewer, D. M., Bardakjian, T., Dankwa, L., Hamedani, A. G., Züchner, S., & Scherer, S. S. (2019). POLG mutations presenting as Charcot-Marie-Tooth disease. Journal of the Peripheral Nervous System, 24(2), 213-218. https://doi.org/10.1111/jns.12313