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

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

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

1 Citation (Scopus)

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
Number of pages	4
ISBN (Electronic)	9780123741059
DOIs	https://doi.org/10.1016/B978-0-12-374105-9.00054-X
Publication status	Published - 1-Jan-2010
Externally published	Yes

Keywords

Dystonia
DYT11
Essential myoclonus
Hereditary essential myoclonus
Inherited myoclonus-dystonia
Myoclonic dystonia
Myoclonus
Myoclonus-dystonia
Primary dystonia
Psychiatric symptoms
ϵ-sarcoglycan

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@inbook{c90bcde9212844778e19ae9ee1b00ff9,

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.",

keywords = "Dystonia, DYT11, Essential myoclonus, Hereditary essential myoclonus, Inherited myoclonus-dystonia, Myoclonic dystonia, Myoclonus, Myoclonus-dystonia, Primary dystonia, Psychiatric symptoms, ϵ-sarcoglycan",

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

year = "2010",

month = jan,

day = "1",

doi = "10.1016/B978-0-12-374105-9.00054-X",

language = "English",

pages = "V2--248--V2--251",

booktitle = "Encyclopedia of Movement Disorders, Three-Volume Set",

publisher = "Elsevier",

}

TY - CHAP

T1 - Myoclonus-Dystonia/Essential Myoclonus

AU - Foncke, E. M.J.

AU - Tijssen, M. A. J.

PY - 2010/1/1

Y1 - 2010/1/1

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.

KW - Dystonia

KW - DYT11

KW - Essential myoclonus

KW - Hereditary essential myoclonus

KW - Inherited myoclonus-dystonia

KW - Myoclonic dystonia

KW - Myoclonus

KW - Myoclonus-dystonia

KW - Primary dystonia

KW - Psychiatric symptoms

KW - ϵ-sarcoglycan

UR - https://www.scopus.com/pages/publications/85184548307

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

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

M3 - Chapter

AN - SCOPUS:85184548307

SP - V2-248-V2-251

BT - Encyclopedia of Movement Disorders, Three-Volume Set

PB - Elsevier

ER -

Myoclonus-Dystonia/Essential Myoclonus

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Keywords

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