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Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease.

Thao Phuong MaiDong-Truc LeTan-Trung NguyenHoang-Linh Le GiaTrung-Hieu Nguyen LeMinh LeMinh Duc Do
Published in: BioMed research international (2019)
Our study expands the mutational spectrum of GDAP1-related CMT disease with the new and unreported GDAP1 variant. Alterations in GDAP1 gene should be evaluated as CMT causing variants in the Vietnamese population, predominantly axonal form of neuropathy in CMT disease.
Keyphrases
  • copy number
  • spinal cord injury
  • peripheral nerve