Molecular Genetics of Charcot-Marie-Tooth Neuropathy

  • Benjamin B. Roa
  • James R. Lupski
Part of the Advances in Human Genetics book series (AHUG, volume 22)


The disease described by Charcot and Marie involves a slowly progressive distal muscular atrophy with initial involvement of the feet and legs, followed by variable progressive weakness of the hands (Charcot and Marie, 1886). Independently, Tooth had reported on a peroneal type of progressive muscular atrophy with essentially the same clinical findings (Tooth, 1886). While the inherited nature of the disease was noted in both studies, Tooth had correctly postulated that the disorder is due to an underlying neuropathy, instead of a myelopathy as Charcot and Marie had proposed.


Globin Gene Hereditary Motor Myelin Protein Zero Peripheral Myelin Protein Neuropathy Type 
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Copyright information

© Springer Science+Business Media New York 1994

Authors and Affiliations

  • Benjamin B. Roa
    • 1
  • James R. Lupski
    • 2
    • 3
  1. 1.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  2. 2.Departments of Molecular and Human Genetics, Pediatrics, and Human Genome CenterBaylor College of MedicineHoustonUSA
  3. 3.Departments of Molecular and Human Genetics, Pediatrics, and Human Genome CenterTexas Children’s HospitalHoustonUSA

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