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Article

Molecular evidence for non-penetrance in Best's disease.

Journal of medical genetics - 1 May 1994

Weber B H, Walker D, Müller B

Abstract excerpt

The present study provides evidence for a possible case of non-penetrance in Best's disease. We have analysed the at risk members of a three generation family with an established history of Best's disease by ophthalmoscopic examination, electrophysiological tests, and genetic analysis. The clinical examination identified 10 affected and five unaffected persons in this family. Genetic linkage analysis strongly...

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Identifiers

PMID: 8064817
DOI: 10.1136/jmg.31.5.388
PMCID: PMC1049871

Genes

PYGM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Molecular evidence for non-penetrance in Best's disease.PMID 8064817Read ↗

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A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.Semantic proximity Read ↗

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A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.Semantic proximity Read ↗

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Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.Semantic proximity Read ↗

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