Abstract
Autosomal dominant Emery–Dreifuss muscular dystrophy (AD-EDMD) is caused by mutations in the LMNA gene and clinically characterised by early onset of skeletal muscle weakness, joint contractures and cardiac arrythmias including dilated cardiomyopathy. There is a highly variable inter and intrafamilial expression of the clinical phenotype. Moreover, mutations in LMNA may result in at least 11 distinct neuromuscular and non-neuromuscular conditions plus some clinically overlapping forms. We identified a family with two male patients affected by EDMD.
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