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Article

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

BMC neurology - 16 Jun 2020

Ng Andrew, Galosi Serena, Salz Lisa, Wong Terence, Schwager Caitlin, Amudhavalli Shivarajan, Gelineau-Morel Rose, Chowdhury Shimul, Friedman Jennifer

Abstract excerpt

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 from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to...

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Identifiers

PMID: 32546208
DOI: 10.1186/s12883-020-01798-x
PMCID: PMC7296679

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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