Article
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.
European journal of haematology - 1 Apr 2010
Pecci Alessandro, Panza Emanuele, De Rocco Daniela, Pujol-Moix Nuria, Girotto Giorgia, Podda Luigi, Paparo Carmelo, Bozzi Valeria, Pastore Annalisa, Balduini Carlo L, Seri Marco, Savoia Anna
Abstract excerpt
MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. All patients present congenital macrothrombocytopenia and inclusion bodies in neutrophils. Some of them can also develop sensorineural deafness, presenile cataract, and/or progressive nephropathy leading to end-stage renal failure. We report four families,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.