Pediatric writer's cramp in myoclonus-dystonia: Maternal imprinting hides positive family history

M. C. F. Gerrits; E. M. J. Foncke; J. H. T. M. Koelman; M. A. J. Tijssen

doi:10.1016/j.ejpn.2008.03.007

Pediatric writer's cramp in myoclonus-dystonia: Maternal imprinting hides positive family history

M. C. F. Gerrits
, E. M. J. Foncke
, J. H. T. M. Koelman
, M. A. J. Tijssen

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene. We describe two unrelated children with M-D (DYT11) who presented with writer's cramp. Due to maternal imprinting the family history appeared initially negative for M-D. In children with writer's cramp screening of the SGCE gene should be considered, even with a negative family history. (C) 2008 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved

Original language	English
Pages (from-to)	178-180
Journal	European journal of paediatric neurology : EJPN
Volume	13
Issue number	2
DOIs	https://doi.org/10.1016/j.ejpn.2008.03.007
Publication status	Published - 2009

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title = "Pediatric writer's cramp in myoclonus-dystonia: Maternal imprinting hides positive family history",

abstract = "Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene. We describe two unrelated children with M-D (DYT11) who presented with writer's cramp. Due to maternal imprinting the family history appeared initially negative for M-D. In children with writer's cramp screening of the SGCE gene should be considered, even with a negative family history. (C) 2008 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved",

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year = "2009",

doi = "10.1016/j.ejpn.2008.03.007",

language = "English",

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T1 - Pediatric writer's cramp in myoclonus-dystonia: Maternal imprinting hides positive family history

AU - Gerrits, M. C. F.

AU - Foncke, E. M. J.

AU - Koelman, J. H. T. M.

AU - Tijssen, M. A. J.

PY - 2009

Y1 - 2009

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AB - Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene. We describe two unrelated children with M-D (DYT11) who presented with writer's cramp. Due to maternal imprinting the family history appeared initially negative for M-D. In children with writer's cramp screening of the SGCE gene should be considered, even with a negative family history. (C) 2008 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved

U2 - 10.1016/j.ejpn.2008.03.007

DO - 10.1016/j.ejpn.2008.03.007

M3 - Article

C2 - 18571946

SN - 1090-3798

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SP - 178

EP - 180

JO - European journal of paediatric neurology : EJPN

JF - European journal of paediatric neurology : EJPN

IS - 2

ER -

Pediatric writer's cramp in myoclonus-dystonia: Maternal imprinting hides positive family history

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