Related Experiment Video
Updated: Jan 28, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
POLG mutations presenting as Charcot-Marie-Tooth disease
Jade Phillips1, Steve Courel2, Adriana P Rebelo2
1Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
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.
Related Concept Videos
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Viral Mutations
Tooth Anatomy
The Crown, Neck, and Root
The visible part of the tooth is referred to as the crown. It's covered by enamel, the hardest substance in the human body. The crown is uniquely shaped for each type of tooth, allowing for different functions such as cutting, tearing, or...
Mutation, Gene Flow, and Genetic Drift
Mutations in Microorganisms

