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Emery-Dreifuss Muscular Dystrophy

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Neuromuscular Disorders in Clinical Practice

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is a genetically heterogeneous muscular disease characterized by the triad of (1) early contractures of the elbows, ankles, and cervical spine; (2) humero-peroneal muscle wasting and weakness; and (3) cardiomyopathy (Emery AE, Dreifuss FE, J Neurol Neurosurg Psychiatry, 29:338–342, 1966).

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Merlini, L., Maraldi, N.M. (2014). Emery-Dreifuss Muscular Dystrophy. In: Katirji, B., Kaminski, H., Ruff, R. (eds) Neuromuscular Disorders in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6567-6_61

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