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Article

ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN.

Neurology - 11 Dec 2001

O'Neill G N, Aoki M, Brown R H

Abstract excerpt

BACKGROUND: Inherited mutations of the X-linked adrenoleukodystrophy (X-ALD) gene (ABCD1) cause two neuropathologically distinct disorders: cerebral adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN). The biochemical hallmark of these disorders is a reduction of very long chain fatty acid...

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Source

Identifiers

PMID: 11739809
DOI: 10.1212/wnl.57.11.1956

Genes

ABCD1
AMN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11739809-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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