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Identification of two new nonsense mutations Q311X and W326X in Exon 2 of the adrenoleukodystrophy (ALD) gene

✍ Scribed by A. Barceló; M. Girós; V.J. Albiach; J. Vaquerizo; T. Pàmpols; X. Estivill

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
212 KB
Volume
8
Category
Article
ISSN
1059-7794

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✦ Synopsis

Adrenoleukodystrophy ( ALD) is a X-linked peroxisomal disease with a highly variable phenotypic expression. While childhood cerebral ALD is the most severe and common form of the disease, adrenomyeloneuropathy (AMN) is a milder clinical form, that arises during adult life. Adrenal insufficiency (Addison disease) is frequently associated with childhood cerebral ALD and AMN, but it may be the only clinical symptom in some patients. Interestingly, all these phenotypes may even occur within members of the same family.

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