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Article

Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia.

Human molecular genetics - 1 Jul 2017

Helassa Nordine, Antonyuk Svetlana V, Lian Lu-Yun, Haynes Lee P, Burgoyne Robert D

Abstract excerpt

Dystonia is a neurological movement disorder that forces the body into twisting, repetitive movements or sometimes painful abnormal postures. With the advent of next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calcium sensor (NCS) hippocalcin were identified as the genetic cause of primary isolated dystonia (DYT2 dystonia). However, the effect of these mutations on...

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Identifiers

PMID: 28398555
DOI: 10.1093/hmg/ddx133
PMCID: PMC5886089

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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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