POLG mutations presenting as Charcot-Marie-Tooth disease.
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ABSTRACT:
SUBMITTER: Phillips J
PROVIDER: S-EPMC8287532 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Publications
POLG mutations presenting as Charcot-Marie-Tooth disease.
Phillips Jade J Courel Steve S Rebelo Adriana P AP Bis-Brewer Dana M DM Bardakjian Tanya T Dankwa Lois L Hamedani Ali G AG Züchner Stephan S Scherer Steven S SS
Journal of the peripheral nervous system : JPNS 20190410 2
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) ...[more]
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