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Article

Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families.

Annals of neurology - 1 Jan 2001

Asmus F, Zimprich A, Naumann M, Berg D, Bertram M, Ceballos-Baumann A, Pruszak-Seel R, Kabus C, Dichgans M, Fuchs S, Müller-Myhsok B, Gasser T

Abstract excerpt

Genetic studies were performed in four German families with autosomal dominant myodonus-dystonia syndrome. Mutations in the D2 dopamine receptor gene, which have been implicated in this disorder, were excluded in all four families by linkage analysis and direct sequencing. All four families supported linkage to the second reported locus on chromosome 7q21 with a combined maximum multipoint lod score of 5.99. The...

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Identifiers

PMID: 11198282
DOI: 10.1002/1531-8249(200101)49:1<121::aid-ana20>3.0.co;2-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families.PMID 11198282Read ↗

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Association of a missense change in the D2 dopamine receptor with myoclonus dystoniaSemantic proximity Read ↗

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