Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

M. C.F. Gerrits; E. M.J. Foncke; R. De Haan; K. Hedrich; Y. L.C. Van De Leemput; F. Baas; L. J. Ozelius; J. D. Speelman; C. Klein; M. A.J. Tijssen

doi:10.1212/01.wnl.0000201192.66467.a3

Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

M. C.F. Gerrits, E. M.J. Foncke, R. De Haan, K. Hedrich, Y. L.C. Van De Leemput, F. Baas, L. J. Ozelius, J. D. Speelman, C. Klein, M. A.J. Tijssen^*

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Neurogenetik

40 Zitate (Scopus)

Abstract

The ε-sarcoglycan (SGCE) gene is an important cause of myoclonus-dystonia (M-D), although the majority of cases with an M-D phenotype test negative. Seven of 31 patients with the M-D phenotype carried a mutation in the SGCE gene. Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carriers.

Originalsprache	Englisch
Zeitschrift	Neurology
Jahrgang	66
Ausgabenummer	5
Seiten (von - bis)	759-761
Seitenumfang	3
ISSN	0028-3878
DOIs	https://doi.org/10.1212/01.wnl.0000201192.66467.a3
Publikationsstatus	Veröffentlicht - 01.03.2006

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title = "Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia",

abstract = "The ε-sarcoglycan (SGCE) gene is an important cause of myoclonus-dystonia (M-D), although the majority of cases with an M-D phenotype test negative. Seven of 31 patients with the M-D phenotype carried a mutation in the SGCE gene. Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carriers.",

author = "Gerrits, \{M. C.F.\} and Foncke, \{E. M.J.\} and \{De Haan\}, R. and K. Hedrich and \{Van De Leemput\}, \{Y. L.C.\} and F. Baas and Ozelius, \{L. J.\} and Speelman, \{J. D.\} and C. Klein and Tijssen, \{M. A.J.\}",

year = "2006",

month = mar,

day = "1",

doi = "10.1212/01.wnl.0000201192.66467.a3",

language = "English",

volume = "66",

pages = "759--761",

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issn = "0028-3878",

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TY - JOUR

T1 - Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

AU - Gerrits, M. C.F.

AU - Foncke, E. M.J.

AU - De Haan, R.

AU - Hedrich, K.

AU - Van De Leemput, Y. L.C.

AU - Baas, F.

AU - Ozelius, L. J.

AU - Speelman, J. D.

AU - Klein, C.

AU - Tijssen, M. A.J.

PY - 2006/3/1

Y1 - 2006/3/1

N2 - The ε-sarcoglycan (SGCE) gene is an important cause of myoclonus-dystonia (M-D), although the majority of cases with an M-D phenotype test negative. Seven of 31 patients with the M-D phenotype carried a mutation in the SGCE gene. Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carriers.

AB - The ε-sarcoglycan (SGCE) gene is an important cause of myoclonus-dystonia (M-D), although the majority of cases with an M-D phenotype test negative. Seven of 31 patients with the M-D phenotype carried a mutation in the SGCE gene. Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carriers.

UR - https://www.scopus.com/pages/publications/33645890876

U2 - 10.1212/01.wnl.0000201192.66467.a3

DO - 10.1212/01.wnl.0000201192.66467.a3

M3 - Journal articles

C2 - 16534121

AN - SCOPUS:33645890876

SN - 0028-3878

VL - 66

SP - 759

EP - 761

JO - Neurology

JF - Neurology

IS - 5

ER -

Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

Abstract

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