De-novo mutation in hereditary motor and sensory neuropathy type I

J. E. Hoogendijk; G. W. Hensels; A. A. Gabreëls-Festen; F. J. Gabreëls; E. A. Janssen; P. de Jonghe; J. J. Martin; C. van Broeckhoven; L. J. Valentijn; F. Baas

doi:10.1016/0140-6736(92)90668-S

De-novo mutation in hereditary motor and sensory neuropathy type I

J. E. Hoogendijk
, G. W. Hensels
, A. A. Gabreëls-Festen
, F. J. Gabreëls
, E. A. Janssen
, P. de Jonghe
, J. J. Martin
, C. van Broeckhoven
, L. J. Valentijn
, F. Baas

Research output: Contribution to journal › Comment/Letter to the editor › Academic

Abstract

Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal recessive. We have found that a recently discovered duplication in chromosome 17, responsible for most cases of autosomal dominant HMSN I, is present as a de-novo mutation in 9 out of 10 sporadic patients. This finding has important implications for genetic counselling of isolated patients with HMSN I

Original language	English
Pages (from-to)	1081-1082
Journal	Lancet
Volume	339
Issue number	8801
DOIs	https://doi.org/10.1016/0140-6736(92)90668-S
Publication status	Published - 1992

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@article{37abe35c957a4bf6afe3a47ed1a55504,

title = "De-novo mutation in hereditary motor and sensory neuropathy type I",

abstract = "Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal recessive. We have found that a recently discovered duplication in chromosome 17, responsible for most cases of autosomal dominant HMSN I, is present as a de-novo mutation in 9 out of 10 sporadic patients. This finding has important implications for genetic counselling of isolated patients with HMSN I",

author = "Hoogendijk, \{J. E.\} and Hensels, \{G. W.\} and Gabre{\"e}ls-Festen, \{A. A.\} and Gabre{\"e}ls, \{F. J.\} and Janssen, \{E. A.\} and \{de Jonghe\}, P. and Martin, \{J. J.\} and \{van Broeckhoven\}, C. and Valentijn, \{L. J.\} and F. Baas",

year = "1992",

doi = "10.1016/0140-6736(92)90668-S",

language = "English",

volume = "339",

pages = "1081--1082",

journal = "Lancet",

issn = "0140-6736",

publisher = "Elsevier Limited",

number = "8801",

}

TY - JOUR

T1 - De-novo mutation in hereditary motor and sensory neuropathy type I

AU - Hoogendijk, J. E.

AU - Hensels, G. W.

AU - Gabreëls-Festen, A. A.

AU - Gabreëls, F. J.

AU - Janssen, E. A.

AU - de Jonghe, P.

AU - Martin, J. J.

AU - van Broeckhoven, C.

AU - Valentijn, L. J.

AU - Baas, F.

PY - 1992

Y1 - 1992

N2 - Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal recessive. We have found that a recently discovered duplication in chromosome 17, responsible for most cases of autosomal dominant HMSN I, is present as a de-novo mutation in 9 out of 10 sporadic patients. This finding has important implications for genetic counselling of isolated patients with HMSN I

AB - Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal recessive. We have found that a recently discovered duplication in chromosome 17, responsible for most cases of autosomal dominant HMSN I, is present as a de-novo mutation in 9 out of 10 sporadic patients. This finding has important implications for genetic counselling of isolated patients with HMSN I

U2 - 10.1016/0140-6736(92)90668-S

DO - 10.1016/0140-6736(92)90668-S

M3 - Comment/Letter to the editor

C2 - 1349106

SN - 0140-6736

VL - 339

SP - 1081

EP - 1082

JO - Lancet

JF - Lancet

IS - 8801

ER -

De-novo mutation in hereditary motor and sensory neuropathy type I

Abstract

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