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

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

Tremor and Other Hyperkinetic Movements

Volume 12 (2022): Issue 1

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

Open Access

|Mar 2022

Figures & Tables

Family history of the proband.
Black shading indicates heterozygosity of KMT2B c.5047 C > T (p.Q1683X).
Diagonal striped shading indicates heterozyosity or hemizygsity of TAF1, c.3296 C > T (p.S1099L).
WT–wildtype.
K–KMT2B c.5047 C>T (pQ1683X).
T–TAF1, c.3296 C>T (p.S1099L).
* Indicates intellectual disability.

DOI: https://doi.org/10.5334/tohm.679 | Journal eISSN: 2160-8288

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Language: English

Submitted on: Dec 16, 2021

Accepted on: Feb 10, 2022

Published on: Mar 17, 2022

Published by: Ubiquity Press

In partnership with: Paradigm Publishing Services

Publication frequency: 1 issue per year

Keywords:

variable expressivity,

complex dystonia

© 2022 Laura R. Owczarzak, Kelsey E. Hogan, Richard T. Dineen, Chandler E. Gill, Mindy H. Li, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.

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