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

BACKGROUND: KMT2B-related dystonia is a primarily childhood-onset movement disorder characterized by progressive dystonia, spasticity, and developmental delay. A minority of individuals possess an inherited KMT2B variant. CASE REPORT: As a child, the proband experienced mild developmental delay and...

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Detalles Bibliográficos
Autores principales: Owczarzak, Laura R., Hogan, Kelsey E., Dineen, Richard T., Gill, Chandler E., Li, Mindy H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8932353/
https://www.ncbi.nlm.nih.gov/pubmed/35415007
http://dx.doi.org/10.5334/tohm.679

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