Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B

European Journal of Paediatric Neurology

Volumn 22, Issue 2, 2018, Pages 245-256

  Gorman, K M ^a,b   Meyer, E ^a   Kurian, M A ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Dystonia; Genetic and inherited disorders; KTM2B; Microdeletions

Indexed keywords

LEVODOPA; HISTONE LYSINE METHYLTRANSFERASE; KMT2B PROTEIN, HUMAN;

CLINICAL FEATURE; DISEASE EXACERBATION; DYSTONIA; GENE; GENE MUTATION; GENERALIZED DYSTONIA; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; KMT2B GENE; NEUROIMAGING; PHENOTYPE; PRIORITY JOURNAL; REVIEW; CHILD; DYSTONIC DISORDER; FEMALE; GENETICS; MUTATION;

CHILD; DYSTONIC DISORDERS; FEMALE; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; MUTATION; PHENOTYPE;

EID: 85039062868     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2017.11.009     Document Type: Review

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