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Article

Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders.

European journal of human genetics : EJHG - 1 Jun 2021

Bourinaris Thomas, Athanasiou Alkyoni, Efthymiou Stephanie, Wiethoff Sarah, Salpietro Vincenzo, Houlden Henry

Abstract excerpt

Junctophilin-3 belongs to a triprotein junctional complex implicated in the regulation of neuronal excitability and involved in the formation of junctional membrane structures between voltage-gated ion channels and endoplasmic (ryanodine) reticular receptors. A monoallelic trinucleotide repeat expansion located within the junctophilin-3 gene (JPH3) has been implicated in a rare autosomal dominant (AD) late-onset...

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PMID: 33824468
DOI: 10.1038/s41431-021-00866-1
PMCID: PMC8187377

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