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Article

Genetic heterogeneity of deafness phenotypes linked to DFNA4.

American journal of medical genetics. Part A - 15 Nov 2005

Yang Tao, Pfister Markus, Blin Nikolaus, Zenner Hans P, Pusch Carsten M, Smith Richard J H

Abstract excerpt

Mutations in the heavy chain of the class II nonmuscle myosin, MYH14, cause autosomal dominant hearing loss in families linked to the DFNA4 locus. Consistent with this discovery, we identified an S120L mutation in MYH14 in a large German family segregating deafness that links to DFNA4. However, complete screening of the American family that originally defined the DFNA4 locus revealed no mutations in this gene....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16222661
DOI: 10.1002/ajmg.a.30989

Genes

MYH14

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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Genetic heterogeneity of deafness phenotypes linked to DFNA4.PMID 16222661Read ↗

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