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Advances in Human Genetics pp 117–152Cite as

Molecular Genetics of Charcot-Marie-Tooth Neuropathy

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Part of the book series: Advances in Human Genetics ((AHUG,volume 22))

Abstract

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.

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Authors and Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA

    Benjamin B. Roa

  2. Departments of Molecular and Human Genetics, Pediatrics, and Human Genome Center, Baylor College of Medicine, Houston, Texas, 77030, USA

    James R. Lupski

  3. Departments of Molecular and Human Genetics, Pediatrics, and Human Genome Center, Texas Children’s Hospital, Houston, Texas, 77030, USA

    James R. Lupski

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  1. Benjamin B. Roa
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Editors and Affiliations

  1. Late of University of Pennsylvania, Philadelphia, USA

    Harry Harris (Former Harnwell Professor of Human Genetics) (Former Harnwell Professor of Human Genetics)

  2. Mount Sinai School of Medicine of The City University, New Yok, USA

    Kurt Hirschhorn (Herbert H. Lehman Professor and Chairman of Pediatrics) (Herbert H. Lehman Professor and Chairman of Pediatrics)

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Roa, B.B., Lupski, J.R. (1994). Molecular Genetics of Charcot-Marie-Tooth Neuropathy. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 22. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-9062-7_3

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