Emery-Dreifuss Muscular Dystrophy Symptoms

LMNA Mutations Cause Distinct Tissue-Specific PhenotypesDifferent LMNA mutations selectively affect striated muscle, adipose, peripheral nerve, or multiple systems. The majority of autosomal dominant mutations cause dilated cardiomyopathy with variable skeletal muscle involvement. The diagram shows the classical Emery-Dreifussmusculardystrophy scapulohumeral-peroneal distribution of skeletal muscle involvement, in which there is usually concurrent tendon contractures.