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Dokumenttyp:
journal article 
Autor(en):
Zech, Michael; Boesch, Sylvia; Maier, Esther M; Borggraefe, Ingo; Vill, Katharina; Laccone, Franco; Pilshofer, Veronika; Ceballos-Baumann, Andres; Alhaddad, Bader; Berutti, Riccardo; Poewe, Werner; Haack, Tobias B; Haslinger, Bernhard; Strom, Tim M; Winkelmann, Juliane 
Titel:
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. 
Abstract:
Early-onset generalized dystonia represents the severest form of dystonia, a hyperkinetic movement disorder defined by involuntary twisting postures. Although frequently transmitted as a single-gene trait, the molecular basis of dystonia remains largely obscure. By whole-exome sequencing a parent-offspring trio in an Austrian kindred affected by non-familial early-onset generalized dystonia, we identified a dominant de novo frameshift mutation, c.6406delC (p.Leu2136Serfs(*)17), in KMT2B, encodin...    »
 
Zeitschriftentitel:
Am J Hum Genet 
Jahr:
2016 
Band / Volume:
99 
Heft / Issue:
Seitenangaben Beitrag:
1377-1387 
Sprache:
eng 
Print-ISSN:
0002-9297 
TUM Einrichtung:
Neurologische Klinik und Poliklinik; Institut für Humangenetik; Lehrstuhl für Neurogenetik