Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.

doi:10.1016/j.parkreldis.2015.08.001

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Article

Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.

Parkinsonism & related disorders - 1 Oct 2015

Dobričić Valerija, Kresojević Nikola, Žarković Milena, Tomić Aleksandra, Marjanović Ana, Westenberger Ana, Cvetković Dragana, Svetel Marina, Novaković Ivana, Kostić Vladimir S

Abstract excerpt

BACKGROUND: In addition to the most frequent TOR1A/DYT1 mutation (c.907_909delGAG), a growing number of TOR1A sequence variants are found in dystonia patients. For most, functional characterization has demonstrated pathogenicity at different levels, implying that TOR1A genetic testing should not be limited to screening for c.907_909delGAG. METHODS: We tested 461 Serbian patients with isolated or combined dystonia...

Topics

Adolescent
Adult
Aged
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
Dystonic Disorders
Female
Genetic Association Studies
Genotype
Humans
Male
Middle Aged

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Molecular Chaperones

Molecular Sequence Data

Mutation

Pedigree

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Open in PubMed

Identifiers

PMID: 26297380
DOI: 10.1016/j.parkreldis.2015.08.001

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