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

doi:10.1111/jns.12313

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

Hussman Institute for Human Genomics

Research output: Contribution to journal › Article

1 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 language	English (US)
Pages (from-to)	213-218
Number of pages	6
Journal	Journal of the Peripheral Nervous System
Volume	24
Issue number	2
DOIs	https://doi.org/10.1111/jns.12313
State	Published - 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

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AU - Dankwa, Lois

AU - Hamedani, Ali G.

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10.1111/jns.12313