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

Journal of the peripheral nervous system : JPNS 2019 Jun

filter terms:

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. © 2019 Peripheral Nerve Society.

Citation

Jade Phillips, Steve Courel, Adriana P Rebelo, Dana M Bis-Brewer, Tanya Bardakjian, Lois Dankwa, Ali G Hamedani, Stephan Züchner, Steven S Scherer. POLG mutations presenting as Charcot-Marie-Tooth disease. Journal of the peripheral nervous system : JPNS. 2019 Jun;24(2):213-218