Article
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
The New England journal of medicine - 29 Jul 2004
Veugelers Mark, Bressan Michael, McDermott Deborah A, Weremowicz Stanislawa, Morton Cynthia C, Mabry C Charlton, Lefaivre Jean-François, Zunamon Alan, Destree Anne, Chaudron Jean-Marie, Basson Craig T
Abstract excerpt
BACKGROUND: Familial cardiac myxomas occur in the hereditary syndrome Carney complex. Although PRKAR1A mutations can cause the Carney complex, the disorder is genetically heterogeneous. To identify the cause of a Carney complex variant associated with distal arthrogryposis (the trismus-pseudocamptodactyly syndrome), we performed clinical and genetic studies. METHODS: A large family with familial cardiac myxomas...
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