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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Veröffentlicht in:	Movement disorders 2004-02, Vol.19 (2), p.231-234
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	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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Zusammenfassung:	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