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

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. © 2003 Movement Disorder Socie...

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Bibliographic Details
Published in:Movement disorders 2004-02, Vol.19 (2), p.231-234
Main Authors: Kock, Norman, Kasten, Meike, Schüle, Birgitt, Hedrich, Katja, Wiegers, Karin, Kabakci, Kemal, Hagenah, Johann, Pramstaller, Peter P., Nitschke, Matthias F., Münchau, Alexander, Sperner, Jürgen, Klein, Christine
Format: Article
Language:English
Subjects:
Adult
Alleles
Biological and medical sciences
Child
Child, Preschool
Chromosome Aberrations
Cytoskeletal Proteins - genetics
Disease Progression
Dystonic Disorders - diagnosis
Dystonic Disorders - genetics
Exons - genetics
Fathers
Female
Follow-Up Studies
Genes, Dominant - genetics
genetic heterogeneity
Genotype
Humans
Male
Medical sciences
Membrane Glycoproteins - genetics
Mutagenesis, Insertional - genetics
Myoclonus - diagnosis
Myoclonus - genetics
myoclonus-dystonia
Neurologic Examination
Neurology
Psychomotor Disorders - diagnosis
Psychomotor Disorders - genetics
Sarcoglycans
SGCE gene
Torticollis - diagnosis
Torticollis - genetics
Videotape Recording
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Description
Summary: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. © 2003 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.10635