Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

Torbjoern G. Nygaard; Deborah Raymond; Caiping Chen; Ichizo Nishino; Paul E. Greene; Danna Jennings; Gary A. Heiman; Christine Klein; Rachel J. Saunders-Pullman; Patricia Kramer; Laurie J. Ozelius; Susan B. Bressman

doi:10.1002/1531-8249(199911)46:5<794::AID-ANA19>3.0.CO;2-2

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

Torbjoern G. Nygaard, Deborah Raymond, Caiping Chen, Ichizo Nishino, Paul E. Greene, Danna Jennings, Gary A. Heiman, Christine Klein, Rachel J. Saunders-Pullman, Patricia Kramer, Laurie J. Ozelius, Susan B. Bressman^*

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

Institut für Neurogenetik

107 Zitate (Scopus)

Abstract

Essential myoclonus-dystonia is a neurological condition characterized by myoclonic and dystonic muscle contractions and the absence of other neurological signs or laboratory abnormalities; it is often responsive to alcohol. The disorder may be familial with apparent autosomal dominant inheritance. We report a large kindred with essential familial myoclonus- dystonia and map a locus for the disorder to a 28-cM region of chromosome 7q21-q31.

Originalsprache	Englisch
Zeitschrift	Annals of Neurology
Jahrgang	46
Ausgabenummer	5
Seiten (von - bis)	794-798
Seitenumfang	5
ISSN	0364-5134
DOIs	https://doi.org/10.1002/1531-8249(199911)46:5<794::AID-ANA19>3.0.CO;2-2
Publikationsstatus	Veröffentlicht - 17.11.1999

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10.1002/1531-8249(199911)46:5<794::AID-ANA19>3.0.CO;2-2

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@article{fc45b9d7432143f0aa913a835ae93ba5,

title = "Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31",

abstract = "Essential myoclonus-dystonia is a neurological condition characterized by myoclonic and dystonic muscle contractions and the absence of other neurological signs or laboratory abnormalities; it is often responsive to alcohol. The disorder may be familial with apparent autosomal dominant inheritance. We report a large kindred with essential familial myoclonus- dystonia and map a locus for the disorder to a 28-cM region of chromosome 7q21-q31.",

author = "Nygaard, \{Torbjoern G.\} and Deborah Raymond and Caiping Chen and Ichizo Nishino and Greene, \{Paul E.\} and Danna Jennings and Heiman, \{Gary A.\} and Christine Klein and Saunders-Pullman, \{Rachel J.\} and Patricia Kramer and Ozelius, \{Laurie J.\} and Bressman, \{Susan B.\}",

year = "1999",

month = nov,

day = "17",

doi = "10.1002/1531-8249(199911)46:5<794::AID-ANA19>3.0.CO;2-2",

language = "English",

volume = "46",

pages = "794--798",

journal = "Annals of Neurology",

issn = "0364-5134",

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TY - JOUR

T1 - Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

AU - Nygaard, Torbjoern G.

AU - Raymond, Deborah

AU - Chen, Caiping

AU - Nishino, Ichizo

AU - Greene, Paul E.

AU - Jennings, Danna

AU - Heiman, Gary A.

AU - Klein, Christine

AU - Saunders-Pullman, Rachel J.

AU - Kramer, Patricia

AU - Ozelius, Laurie J.

AU - Bressman, Susan B.

PY - 1999/11/17

Y1 - 1999/11/17

N2 - Essential myoclonus-dystonia is a neurological condition characterized by myoclonic and dystonic muscle contractions and the absence of other neurological signs or laboratory abnormalities; it is often responsive to alcohol. The disorder may be familial with apparent autosomal dominant inheritance. We report a large kindred with essential familial myoclonus- dystonia and map a locus for the disorder to a 28-cM region of chromosome 7q21-q31.

AB - Essential myoclonus-dystonia is a neurological condition characterized by myoclonic and dystonic muscle contractions and the absence of other neurological signs or laboratory abnormalities; it is often responsive to alcohol. The disorder may be familial with apparent autosomal dominant inheritance. We report a large kindred with essential familial myoclonus- dystonia and map a locus for the disorder to a 28-cM region of chromosome 7q21-q31.

UR - https://www.scopus.com/pages/publications/0032705097

U2 - 10.1002/1531-8249(199911)46:5<794::AID-ANA19>3.0.CO;2-2

DO - 10.1002/1531-8249(199911)46:5<794::AID-ANA19>3.0.CO;2-2

M3 - Journal articles

C2 - 10554001

AN - SCOPUS:0032705097

SN - 0364-5134

VL - 46

SP - 794

EP - 798

JO - Annals of Neurology

JF - Annals of Neurology

IS - 5

ER -

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

Abstract

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