A Novel Heterozygous ANO3 Mutation in a Child Presenting Tremor with Dystonia and Review of the Literature
Keyword(s):
AbstractMutations 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.
2018 ◽
Vol 34
(2)
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pp. 86-93
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1995 ◽
Vol 154
(8)
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pp. 658-661
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