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Article

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

Human genetics - 1 Jul 2004

Luijendijk Mirjam W J, Van Wijk Erwin, Bischoff Anne M L C, Krieger Elmar, Huygen Patrick L M, Pennings Ronald J E, Brunner Han G, Cremers Cor W R J, Cremers Frans P M, Kremer Hannie

Abstract excerpt

Myosin VIIA is an unconventional myosin that has been implicated in Usher syndrome type 1B, atypical Usher syndrome, non-syndromic autosomal recessive hearing impairment (DFNB2) and autosomal dominant hearing impairment (DFNA11). Here, we present a family with non-syndromic autosomal dominant hearing impairment that clinically resembles the previously published DFNA11 family. The affected family members show a...

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PMID: 15221449
DOI: 10.1007/s00439-004-1137-3

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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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