Clinical and genetic features of myoclonus-dystonia in 3 cases: A video presentation

Norman Kock; Meike Kasten; Birgitt Schüle; Katja Hedrich; Karin Wiegers; Kemal Kabakci; Johann Hagenah; Peter P. Pramstaller; Matthias F. Nitschke; Alexander München; Jürgen Sperner; Christine Klein

doi:10.1002/mds.10635

Clinical and genetic features of myoclonus-dystonia in 3 cases: A video presentation

Norman Kock, Meike Kasten, Birgitt Schüle, Katja Hedrich, Karin Wiegers, Kemal Kabakci, Johann Hagenah, Peter P. Pramstaller, Matthias F. Nitschke, Alexander München, Jürgen Sperner, Christine Klein^*

^*Corresponding author for this work

13 Citations (Scopus)

Abstract

Many cases of myoclonus-dystonia (M-D) are caused by mutations in the ε-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.

Original language	English
Journal	Movement Disorders
Volume	19
Issue number	2
Pages (from-to)	231-234
Number of pages	4
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.10635
Publication status	Published - 19.03.2004

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abstract = "Many cases of myoclonus-dystonia (M-D) are caused by mutations in the ε-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.",

author = "Norman Kock and Meike Kasten and Birgitt Sch{\"u}le and Katja Hedrich and Karin Wiegers and Kemal Kabakci and Johann Hagenah and Pramstaller, {Peter P.} and Nitschke, {Matthias F.} and Alexander M{\"u}nchen and J{\"u}rgen Sperner and Christine Klein",

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AU - Kock, Norman

AU - Kasten, Meike

AU - Schüle, Birgitt

AU - Hedrich, Katja

AU - Wiegers, Karin

AU - Kabakci, Kemal

AU - Hagenah, Johann

AU - Pramstaller, Peter P.

AU - Nitschke, Matthias F.

AU - München, Alexander

AU - Sperner, Jürgen

AU - Klein, Christine

PY - 2004/3/19

Y1 - 2004/3/19

N2 - Many cases of myoclonus-dystonia (M-D) are caused by mutations in the ε-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.

AB - Many cases of myoclonus-dystonia (M-D) are caused by mutations in the ε-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.

UR - http://www.scopus.com/inward/record.url?scp=12144288508&partnerID=8YFLogxK

U2 - 10.1002/mds.10635

DO - 10.1002/mds.10635

M3 - Journal articles

C2 - 14978685

AN - SCOPUS:12144288508

SN - 0885-3185

VL - 19

SP - 231

EP - 234

JO - Movement Disorders

JF - Movement Disorders

IS - 2

ER -

Clinical and genetic features of myoclonus-dystonia in 3 cases: A video presentation

Abstract

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