Article
MYH9 genetic variants associated with glomerular disease: what is the role for genetic testing?
Seminars in nephrology - 1 Jul 2010
Kopp Jeffrey B, Winkler Cheryl A, Nelson George W
Abstract excerpt
Genetic variation in MYH9, encoding nonmuscle myosin IIA heavy chain, has been associated recently with increased risk for kidney disease. Previously, MYH9 missense mutations have been shown to cause the autosomal-dominant MYH9 (ADM9) spectrum, characterized by large platelets, leukocyte Döhle bodies, and, variably, sensorineural deafness, cataracts, and glomerulopathy. Genetic testing is indicated for familial...
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