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Article

An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.

Movement disorders : official journal of the Movement Disorder Society - 1 May 2021

Ferrini Arianna, Steel Dora, Barwick Katy, Kurian Manju A

Abstract excerpt

Adenylyl cyclase 5 (ADCY5)-related phenotypes comprise an expanding disease continuum, but much remains to be understood about the underlying pathogenic mechanisms of the disease. ADCY5-related disease comprises a spectrum of hyperkinetic disorders involving chorea, myoclonus, and/or dystonia, often with paroxysmal exacerbations. Hypotonia, developmental delay, and intellectual disability may be present. The...

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PMID: 33934385
DOI: 10.1002/mds.28495

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