Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation

Abstract Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result fro...

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Bibliographic Details
Main Authors: Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose Gelineau-Morel, Shimul Chowdhury, on behalf of Rady Children’s Institute for Genomic Medicine Investigators, Jennifer Friedman
Format: Article
Language:English
Published: BMC 2020-06-01
Series:BMC Neurology
Subjects:
KMT2B
Dystonia
Failure to thrive
Whole genome sequencing
Online Access:http://link.springer.com/article/10.1186/s12883-020-01798-x

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http://link.springer.com/article/10.1186/s12883-020-01798-x

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