Article
Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.
Circulation. Cardiovascular genetics - 1 Aug 2015
Bainbridge Matthew N, Davis Erica E, Choi Wen-Yee, Dickson Amy, Martinez Hugo R, Wang Min, Dinh Huyen, Muzny Donna M, Pignatelli Ricardo, Katsanis Nicholas, Boerwinkle Eric, Gibbs Richard A, Jefferies John L
Abstract excerpt
BACKGROUND: Left ventricular noncompaction (LVNC) is an autosomal-dominant, genetically heterogeneous cardiomyopathy with variable severity, which may co-occur with cardiac hypertrophy. METHODS AND RESULTS: Here, we generated whole exome sequence data from multiple members from 5 families with LVNC. In 4 of 5 families, the candidate causative mutation segregates with disease in known LVNC genes MYH7 and TPM1....
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