Article
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
Human mutation - 1 Mar 2008
Pecci Alessandro, Panza Emanuele, Pujol-Moix Núria, Klersy Catherine, Di Bari Filomena, Bozzi Valeria, Gresele Paolo, Lethagen Stefan, Fabris Fabrizio, Dufour Carlo, Granata Antonio, Doubek Michael, Pecoraro Carmine, Koivisto Pasi A, Heller Paula G, Iolascon Achille, Alvisi Patrizia, Schwabe Dirk, De Candia Erica, Rocca Bianca, Russo Umberto, Ramenghi Ugo, Noris Patrizia, Seri Marco, Balduini Carlo L, Savoia Anna
Abstract excerpt
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, but in infancy or adult life, some of them develop sensorineural deafness, presenile cataracts, and/or progressive nephritis leading to end-stage renal failure. No consistent correlations have...
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