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Type: Journal article
Title: Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.
Author: Partington, M.
Turner, G.
Boyle, J.
Gecz, J.
Citation: Clinical Genetics, 2004; 66(1):39-45
Publisher: Blackwell Munksgaard
Issue Date: 2004
ISSN: 0009-9163
Abstract: Three families with X-linked mental retardation caused by a 24 base-pair duplication in ARX[428-451dup(24 bp)] are reported. The clinical features in these and six other published families are reviewed. In general, the clinical picture is variable. Mental retardation ranges from mild to severe. Infantile spasms (West syndrome) occurred in 12.5% and other less severe forms of seizures in 37.5%. Characteristic dystonic movements of the hands were seen in 63% and dysarthria in 54%. The focal dystonia, in association with mental retardation, may prove to be diagnostic of this mutation.
Keywords: Humans; Dystonic Disorders; Mental Retardation, X-Linked; Syndrome; Homeodomain Proteins; Transcription Factors; Pedigree; Heterozygote; Mutation; Adult; Male
RMID: 0020040653
DOI: 10.1111/j.0009-9163.2004.00268.x
Appears in Collections:Paediatrics publications

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