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Article

TOR1A mutation-related isolated childhood-onset generalised dystonia in South Africa.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde - 5 Oct 2021

Van Coller R, Schutte C-M, Lubbe E, Ngele B

Abstract excerpt

BACKGROUND: Childhood-onset generalised dystonia is commonly caused by TOR1A mutations and is known to respond well to pallidal deep-brain stimulation (DBS) surgery. The incidence and prevalence of monogenic dystonia in individuals from Africa and specifically of African ancestry are unknown, and no local cases of TOR1A mutation dystonia are found in the literature. OBJECTIVES: To describe our experience with the...

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Identifiers

PMID: 34949287
DOI: 10.7196/SAMJ.2021.v111i10.15801

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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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