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Article

Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea.

Journal of the neurological sciences - 15 Jan 2008

Provenzano Claudia, Veneziano Liana, Appleton Richard, Frontali Marina, Civitareale Donato

Abstract excerpt

Benign hereditary chorea (BHC) is an autosomal dominant disorder of early onset characterised by non progressive choreic movements with normal cognitive function occasionally associated with hypothyroidism and respiratory problems. Numerous pieces of evidence link BHC with TITF-1/NKX2.1 gene mutations. We studied a patient with a familial benign hereditary chorea and normal thyroid and respiratory function....

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Identifiers

PMID: 17765926
DOI: 10.1016/j.jns.2007.06.056

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CGA

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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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Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea.PMID 17765926Read ↗

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