A New Pathologic <i>KMT2B</i> Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members.

Owczarzak, Laura R; Hogan, Kelsey E; Dineen, Richard T; Gill, Chandler E; Li, Mindy H

A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members.

Owczarzak, Laura R; Hogan, Kelsey E; Dineen, Richard T; Gill, Chandler E; Li, Mindy H.

Afiliación

Owczarzak LR; Rush Medical College and Rush University Medical Center, Chicago, IL, USA.
Hogan KE; Division of Genetics, Department of Pediatrics, Rush Medical College and Rush University Medical Center, Chicago, IL, USA.
Dineen RT; Division of Genetics, Department of Pediatrics, Rush Medical College and Rush University Medical Center, Chicago, IL, USA.
Gill CE; Section of Movement Disorders, Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.
Li MH; Division of Genetics, Department of Pediatrics, Rush Medical College and Rush University Medical Center, Chicago, IL, USA.

Tremor Other Hyperkinet Mov (N Y) ; 12: 7, 2022.

Article en En | MEDLINE | ID: mdl-35415007

Asunto(s)

Distonía; Trastornos Distónicos; Niño; Distonía/diagnóstico; Distonía/genética; Trastornos Distónicos/genética; Familia; N-Metiltransferasa de Histona-Lisina/genética; Humanos; Mutación; Fenotipo

Palabras clave

DYT-28; KMT2B; MLL4; complex dystonia; dystonia; variable expressivity

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos Distónicos / Distonía Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Tremor Other Hyperkinet Mov (N Y) Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos

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