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Article

KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.

European journal of neurology - 1 Aug 2020

Balint B, Guerreiro R, Carmona S, Dehghani N, Latorre A, Cordivari C, Bhatia K P, Bras J

Abstract excerpt

BACKGROUND AND PURPOSE: Despite recent advances in neurogenetics that have facilitated the identification of a number of dystonia genes, many familial dystonia syndromes remain without known cause. The aim of the study was to identify the cause of autosomal dominant tremulous myoclonus-dystonia in a UK kindred with affected individuals in three generations. METHODS: Known genetic causes of myoclonus-dystonia were...

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Source

Identifiers

PMID: 32212350
DOI: 10.1111/ene.14228

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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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