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Article

ADCY5 gene mutation: a case report.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2022

Tezen Didem, Gunduz Aysegul, Erdemir Kiziltan Meral, Yalcinkaya Cengiz, Kiziltan Gunes

Abstract excerpt

BACKGROUND: ADCY5 mutation is a clinical condition that has been described in limited numbers in the literature, causing hyperkinetic movement disorder, and may be sporadic or familial. PATIENT DESCRIPTION: This report looks at the involuntary movements that started early in life in a 5-year-old girl. RESULTS: Patient's electroensephalogram and cranial magnetic resonance imaging were normal. Metabolic scans were...

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Identifiers

PMID: 36112278
DOI: 10.1007/s10072-022-06394-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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