Myoclonus-Dystonia/Essential Myoclonus

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

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

Myoclonus-Dystonia/Essential Myoclonus

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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, Three-Volume Set
Publisher	Elsevier
Pages	V2-248-V2-251
ISBN (Electronic)	9780123741059
DOIs	https://doi.org/10.1016/B978-0-12-374105-9.00054-X
Publication status	Published - 1 Jan 2010

Publication series

Name	Encyclopedia of Movement Disorders, Three-Volume Set

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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 {\textquoteleft}Hereditary essential myoclonus{\textquoteright}) 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 = "Foncke, {E. M. J.} and Tijssen, {M. A. J.}",

year = "2010",

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

M3 - Chapter

T3 - Encyclopedia of Movement Disorders, Three-Volume Set

SP - V2-248-V2-251

BT - Encyclopedia of Movement Disorders, Three-Volume Set

PB - Elsevier

ER -

Myoclonus-Dystonia/Essential Myoclonus

Abstract

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