Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/7144
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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: an international journal of genetics and molecular medicine, 2004; 66(1):39-45
Publisher: Blackwell Munksgaard
Issue Date: 2004
ISSN: 0009-9163
1399-0004
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
DOI: 10.1111/j.0009-9163.2004.00268.x
Appears in Collections:Aurora harvest 5
Paediatrics publications

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