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Document type:
journal article 
Author(s):
Zech, Michael; Jech, Robert; Havránková, Petra; Fe?íková, Anna; Berutti, Riccardo; Urgo?ík, Du?an; Kemlink, David; Strom, Tim M; Roth, Jan; R??i?ka, Ev?en; Winkelmann, Juliane 
Title:
KMT2B rare missense variants in generalized dystonia. 
Abstract:
Recently a novel syndrome of childhood-onset generalized dystonia originating from mutations in lysine-specific methyltransferase 2B (KMT2B) has been reported.We sequenced the exomes of 4 generalized dystonia-affected probands recruited from a Prague movement disorders center (Czech Republic). Bioinformatics analyses were conducted to select candidate causal variants in described dystonia-mutated genes. After cosegregation testing, checklists from the American College of Medical Genetics and Gen...    »
 
Journal title abbreviation:
Mov Disord 
Year:
2017 
Journal volume:
32 
Journal issue:
Pages contribution:
1087-1091 
Language:
eng 
Fulltext / DOI:
Print-ISSN:
0885-3185 
TUM Institution:
Klinik und Poliklinik für Neurologie; Institut für Humangenetik; Lehrstuhl für Neurogenetik (Fr. Prof. Winkelmann)