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Article

Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.

Developmental medicine and child neurology - 1 Jul 2014

Peall Kathryn J, Lumsden Daniel, Kneen Rachel, Madhu Rajesh, Peake Deirdre, Gibbon Frances, Lewis Hilary, Hedderly Tammy, Meyer Esther, Robb Stephanie A, Lynch Bryan, King Mary D, Lin Jean-Pierre, Morris Huw R, Jungbluth Heinz, Kurian Manju A

Abstract excerpt

AIM: Benign hereditary chorea is a dominantly inherited, childhood-onset hyperkinetic movement disorder characterized by non-progressive chorea and variable degrees of thyroid and respiratory involvement. Loss-of-function mutations in NKX2.1, a gene vital to the normal development and function of the brain, lungs, and thyroid, have been identified in a number of individuals. METHOD: Clinical data from individuals...

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Identifiers

PMID: 24171694
DOI: 10.1111/dmcn.12323

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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