Myoclonus-Dystonia/Essential Myoclonus

K.J. Peall; E. M. J. Foncke; M. A. J. Tijssen

doi:10.1016/B978-0-12-374105-9.00054-X

Myoclonus-Dystonia/Essential Myoclonus

K.J. Peall, E. M. J. Foncke, M. A. J. Tijssen

Neurology

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

Abstract

Myoclonus-dystonia (M-D, formerly known as 'Hereditary essential myoclonus') is a rare movement disorder characterized by myoclonic jerks and dystonic movements or postures. M-D has an autosomal dominant inheritance with reduced penetrance because of maternal imprinting and is caused by mutations in the ε-sarcoglycan gene (SGCE) on chromosome 7q21.

Original language	English
Title of host publication	Encyclopedia of Movement Disorders
Publisher	Elsevier Inc.
Pages	248-251
ISBN (Electronic)	9780123741059
ISBN (Print)	9780123741011
DOIs	https://doi.org/10.1016/B978-0-12-374105-9.00054-X
Publication status	Published - 2010

Publication series

Name	Encyclopedia of Movement Disorders

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10.1016/B978-0-12-374105-9.00054-X

Cite this

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title = "Myoclonus-Dystonia/Essential Myoclonus",

abstract = "Myoclonus-dystonia (M-D, formerly known as 'Hereditary essential myoclonus') is a rare movement disorder characterized by myoclonic jerks and dystonic movements or postures. M-D has an autosomal dominant inheritance with reduced penetrance because of maternal imprinting and is caused by mutations in the ε-sarcoglycan gene (SGCE) on chromosome 7q21.",

author = "K.J. Peall and Foncke, {E. M. J.} and Tijssen, {M. A. J.}",

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AU - Peall, K.J.

AU - Foncke, E. M. J.

AU - Tijssen, M. A. J.

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Y1 - 2010

N2 - Myoclonus-dystonia (M-D, formerly known as 'Hereditary essential myoclonus') is a rare movement disorder characterized by myoclonic jerks and dystonic movements or postures. M-D has an autosomal dominant inheritance with reduced penetrance because of maternal imprinting and is caused by mutations in the ε-sarcoglycan gene (SGCE) on chromosome 7q21.

AB - Myoclonus-dystonia (M-D, formerly known as 'Hereditary essential myoclonus') is a rare movement disorder characterized by myoclonic jerks and dystonic movements or postures. M-D has an autosomal dominant inheritance with reduced penetrance because of maternal imprinting and is caused by mutations in the ε-sarcoglycan gene (SGCE) on chromosome 7q21.

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U2 - 10.1016/B978-0-12-374105-9.00054-X

DO - 10.1016/B978-0-12-374105-9.00054-X

M3 - Chapter

SN - 9780123741011

T3 - Encyclopedia of Movement Disorders

SP - 248

EP - 251

BT - Encyclopedia of Movement Disorders

PB - Elsevier Inc.

ER -

Myoclonus-Dystonia/Essential Myoclonus

Abstract

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