Article
X-linked nonsyndromic sinus node dysfunction and atrial fibrillation caused by emerin mutation.
Journal of cardiovascular electrophysiology - 1 May 2008
Karst Margaret L, Herron Kathleen J, Olson Timothy M
Abstract excerpt
INTRODUCTION: Atrial fibrillation (AF) is a heritable disorder with male predilection, suggesting a sex chromosome defect in certain patients. Loss-of-function truncation mutations in EMD, encoding the nuclear membrane protein emerin, cause X-linked Emery-Dreifuss muscular dystrophy (EDMD) characterized by localized contractures and skeletal myopathy in adolescence, sinus node dysfunction (SND) in early...
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