Article
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
Ear and hearing - 1 Jan 2000
Verver Eva J J, Topsakal Vedat, Kunst Henricus P M, Huygen Patrick L M, Heller Paula G, Pujol-Moix Nuria, Savoia Anna, Benazzo Marco, Fierro Tiziana, Grolman Wilko, Gresele Paolo, Pecci Alessandro
Abstract excerpt
OBJECTIVES: MYH9-related disease (MYH9-RD) is an autosomal- dominant disorder deriving from mutations in MYH9, the gene for the nonmuscle myosin heavy chain (NMMHC)-IIA. MYH9-RD has a complex phenotype including congenital features, such as thrombocytopenia, and noncongenital manifestations, namely sensorineural hearing loss (SNHL), nephropathy, cataract, and liver abnormalities. The disease is caused by a...
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