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Article

Identification of a novel genetic locus underlying tremor and dystonia.

Human genomics - 6 Nov 2017

Monies Dorota, Abou Al-Shaar Hussam, Goljan Ewa A, Al-Younes Banan, Al-Breacan Muna Monther Abdullah, Al-Saif Maher Mohammed, Wakil Salma M, Meyer Brian F, Khabar Khalid S A, Bohlega Saeed

Abstract excerpt

BACKGROUND: Five affected individuals with syndromic tremulous dystonia, spasticity, and white matter disease from a consanguineous extended family covering a period of over 24 years are presented. A positional cloning approach utilizing genome-wide linkage, homozygozity mapping and whole exome sequencing was used for genetic characterization. The impact of a calmodulin-binding transcription activator 2, (CAMTA2)...

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Source

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Identifiers

PMID: 29110692
DOI: 10.1186/s40246-017-0123-5
PMCID: PMC5674688

Genes

CAMTA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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