Hereditary Motor and Sensory Neuropathy Mutation

J Gordon Millichap

doi:10.15844/pedneurbriefs-6-6-5

Hereditary Motor and Sensory Neuropathy Mutation

Pediatric Neurology Briefs

Volume 6 (1992): Issue 6

By: J Gordon Millichap

Open Access

|Jun 1992

Abstract

A duplication in chromosome 17 responsible for most cases of autosomal dominant HMSN 1 was present as a de-novo mutation in 9 out of 10 sporadic patients examined at the Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.

References

Hoogendijk JE Hensels GW Gabreels-Festen AA Gabreels FJ Janssen EA de Jonghe P De-novo mutation in hereditary motor and sensory neuropathy type I Lancet 1992 May 2 339 8801 1081 1082 10.1016/0140-6736(92)90668-S 1349106
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Hallam PJ Harding AE Berciano J Barker DF Malcolm S Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1) Ann Neurol 1992 May 31 5 570 572 10.1002/ana.410310518 1596093
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Ionasescu VV Trofatter J Haines JL Ionasescu R Searby C Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy Neurology 1992 Apr 42 4 903 908 10.1212/WNL.42.4.903 1565250
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-6-6-5 | Journal eISSN: 2166-6482

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Language: English

Page range: 44 - 44

Published on: Jun 1, 1992

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

De-Novo Mutation,

Autosomal Recessive,

Genetic Loci

© 1992 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 6 (1992): Issue 6