POLG mutations presenting as Charcot-Marie-Tooth disease.

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.

SUBMITTER: Phillips J 

PROVIDER: S-EPMC8287532 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature