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Article

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.

Neurology - 10 Jun 1999

Sue C M, Tanji K, Hadjigeorgiou G, Andreu A L, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R

Abstract excerpt

Thirty-six of 43 maternally related members of a large African American family experienced hearing loss. A muscle biopsy specimen from the proband showed cytochrome c oxidase (COX)-deficient fibers but no ragged-red fibers; biochemical analysis showed marked reduction of COX activity. A novel T7511C point mutation in the tRNA(Ser(UCN)) gene was present in almost homoplasmic levels (>95%) in the blood of 18 of 20...

Read the complete abstract on PubMed

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Share to Deafness
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymerase Chain Reaction

Share to Polymorphism, Restriction Fragment Length

Share to RNA, Transfer, Ser

Source

Identifiers

PMID: 10371545
DOI: 10.1212/wnl.52.9.1905

Genes

UCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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