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Article

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.

Clinical genetics - 1 Jul 2015

Verver E, Pecci A, De Rocco D, Ryhänen S, Barozzi S, Kunst H, Topsakal V, Savoia A

Abstract excerpt

MYH9-related disease (MYH9-RD) is a rare autosomal dominant disease caused by mutation of MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (NMMHC-IIA). MYH9-RD patients have macrothrombocytopenia and granulocyte inclusions (pathognomonic sign of the disease) containing wild-type and mutant NMMHC-IIA. During life they might develop sensorineural hearing loss, cataract, glomerulonephritis, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24890873
DOI: 10.1111/cge.12438

Genes

MYH9

Provenance

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R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.PMID 24890873Read ↗

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