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Article

Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree.

European journal of human genetics : EJHG - 1 Jan 1996

Matthijs G, Claes S, Longo-Mbenza B, Cassiman J J

Abstract excerpt

Hereditary non-syndromic deafness has been associated with a point mutation in the mitochondrial 12S rRNA gene. We present data from deaf individuals in 12 nuclear families originating from a small village in Zaire. The patients have a sudden-onset and profound, bilateral sensorineural deafness with a highly variable age of onset. Inheritance is compatible with a mitochondrial DNA defect. Sequencing of the...

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Identifiers

PMID: 8800928
DOI: 10.1159/000472169

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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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