POLG mutations presenting as Charcot-Marie-Tooth disease.

Jade PhillipsSteve CourelAdriana P RebeloDana M Bis-BrewerTanya BardakjianLois DankwaAli G HamedaniStephan ZüchnerStephen W Scherer

Published in: Journal of the peripheral nervous system : JPNS (2019)

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.

Keyphrases

early onset
late onset
spinal cord injury
case report
optic nerve
gene expression
dna methylation
copy number