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Article

Case report: retinopathy and neuropathy associated with complete apolipoprotein A-I deficiency.

The American journal of the medical sciences - 1 Jul 1996

Ng D S, O'Connor P W, Mortimer C B, Leiter L A, Connelly P W, Hegele R A

Abstract excerpt

Genetic deficiencies of plasma high-density lipoprotein cholesterol are associated variably with diseases of the eyes and nervous system. We ascertained a proband with undetectable plasma HDL-cholesterol due to homozygosity for a DNA mutation, APOA1 Q[-2]X, which encodes premature termination of translation of apolipoprotein in HDL. This person had a unique retinopathy, ataxia, and electrophysiologic...

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Source

Identifiers

PMID: 8686727
DOI: 10.1097/00000441-199607000-00006

Genes

APOA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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