Article
[Adrenomyeloneuropathy: a late type of adrenoleukodystrophy linked to chromosome X].
Neurologia i neurochirurgia polska - 1 Jan 2000
Drozdowski Wiesław, Borowik Helena, Pogorzelski Robert
Abstract excerpt
Adrenomyeloneuropathy is a late type of adrenoleukodystrophy. It is a hereditary disease linked to chromosome X and it is caused by abnormalities in the function of peroxisomes. Adrenomyeloneuropathy results from mutations in ABCD1 gene, that resides on chromosome Xq28 and encodes an integral peroxisomal membrane protein ALDP that belongs to the ATP-binding cassette-transporter family. The enzymatic defect...
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