Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

Myoclonus–dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previou...

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Veröffentlicht in:	Movement disorders 2008-01, Vol.23 (1), p.28-34
Hauptverfasser:	Nardocci, Nardo, Zorzi, Giovanna, Barzaghi, Chiara, Zibordi, Federica, Ciano, Claudia, Ghezzi, Daniele, Garavaglia, Barbara
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age of Onset Biological and medical sciences Child Child, Preschool Chromosomes, Human, Pair 7 - genetics clinical features Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Disease Progression DNA Primers - genetics DNA, Complementary - genetics Dystonia - epidemiology Dystonia - genetics Dystonia - physiopathology Electromyography Exons - genetics Female Follow-Up Studies Humans Infant Male Medical sciences Middle Aged Molecular Chaperones - genetics Muscle, Skeletal - innervation Muscle, Skeletal - physiopathology Myoclonus - epidemiology Myoclonus - genetics Myoclonus - physiopathology myoclonus-dystonia Neurology neurophysiology pediatric Point Mutation - genetics Protein Splicing - genetics Sarcoglycans - genetics Syndrome Upper Extremity - physiopathology ϵ-sarcoglycan gene
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