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

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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

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Keywords

  • mitochondria
  • neuropathy
  • uniparental disomy

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

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