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Article

Familial choreoathetosis due to novel heterozygous mutation in PDE10A.

American journal of medical genetics. Part A - 1 Jan 2018

Narayanan Dhanya L, Deshpande Dipti, Das Bhowmik Aneek, Varma Dandu R, Dalal Ashwin

Abstract excerpt

PDE10A encodes a dual cAMP-cGMP phosphodiesterase that is enriched in the medium spiny neurons of the corpus striatum in the brain and plays an important role in basal ganglia circuitry. Three unrelated patients with childhood onset chorea and striatal abnormalities on MRI brain with heterozygous de novo variants in PDE10A have been described previously. Two families with eight affected individuals with biallelic...

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PMID: 29130591
DOI: 10.1002/ajmg.a.38507

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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