Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis

@article{Kato2001MutationOT,
  title={Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis},
  author={M. Kato and M. Kanai and O. Soma and Y. Takusa and T. Kimura and C. Numakura and T. Matsuki and S. Nakamura and K. Hayasaka},
  journal={Annals of Neurology},
  year={2001},
  volume={50}
}
The molecular basis of double cortex syndrome was investigated in 2 male patients. Magnetic resonance imaging of the patients' heads showed diffuse subcortical band heterotopia, as is seen in female patients. We found a heterozygous mutation for Asp50Lys or Arg39Stop in both patients. Microsatellite polymorphism analysis revealed that both patients had inherited a single X chromosome from their mothers. Restriction enzyme analysis using DNA extracted from the hair roots of each patient showed… Expand
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