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Article

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.

Neurogenetics - 1 Dec 2005

Costa Maria do Carmo, Costa Cristina, Silva Ana Paula, Evangelista Pedro, Santos Luís, Ferro Anabela, Sequeiros Jorge, Maciel Patrícia

Abstract excerpt

Benign hereditary chorea (BHC) is an autosomaldominant disorder of early onset characterized by a slowly progressing or nonprogressing chorea, without cognitive decline or other progressive neurologic dysfunction, but also by the existence of heterogeneity of the clinical presentation within and among families. The genetic cause of BHC is the presence of either point mutations or deletions in the thyroid...

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Source

Identifiers

PMID: 16220345
DOI: 10.1007/s10048-005-0013-1

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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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