A Novel Heterozygous ANO3 Mutation in a Child Presenting Tremor with Dystonia and Review of the Literature

Autor:	Muhammet Furkan Korkmaz, Arzu Ekici, Orhan Görükmez
Rok vydání:	2021
Předmět:	Pediatrics Perinatology and Child Health Neurology (clinical) nervous system diseases
Zdroj:	Journal of Pediatric Neurology. 20:403-406
ISSN:	1875-9041 1304-2580
DOI:	10.1055/s-0041-1740368
Popis:	Mutations in ANO3 have recently been identified as an autosomal dominant cause of dystonia (dystonia-24). Since then, the phenotypic spectrum has also been extended in children. Here, we reported a case of a 10-year-old Turkish girl child patient with a novel variant (NM_001313726: c.221dupA, p.Tyr74*), who exhibited tremor with mild dystonia. This report expands the phenotype caused by ANO3 variants and reveals an essential clinical aspect for patients and medical staff.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::3d6fdf53e7edd8263ca40eeb08754377 https://doi.org/10.1055/s-0041-1740368 Zobrazit plný text záznamu