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Intrafamilial phenotypic and genetic heterogeneity of dystonia

✍ Scribed by Vladimir S. Kostić; Marina Svetel; Kemal Kabakci; Aleksandar Ristić; Igor Petrović; Birgitt Schüle; Norman Kock; Ana Djarmati; Stanka Romac; Christine Klein

Book ID
119302078
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
216 KB
Volume
250
Category
Article
ISSN
0022-510X

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Inherited myoclonus-dystonia (IMD) is a new term used to describe an autosomal dominant form of myoclonus. Recently a family with IMD was linked to a region on chromosome 11q23 and a possible mutation identified in the D2 dopamine receptor. We have identified a large family with 12 affected individu