We report on a man that had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows since he was 5 years old. At age 26 he developed tachycardia episodes. A complex arrhythmia was discovered, and a nodal ablation was done with a cardiac pacemaker implanted. The patient had an arrhythmia and sudden death followed this. Emery-Dreifuss muscular dystrophy is a rare recessive X-linked muscular disorder where mixed patterns in electromyography and muscle histology (neurogenic and/or myopathic) have caused nosological confusion. The autopsy findings are here described and correlated to the clinical features in an attempt to better understand the ambiguous findings concerning the process etiology.
CITATION STYLE
De Carvalho, A. A. S., Levy, J. A., Gutierrez, P. S., Marie, S. K. N., Sosa, E. A., & Scanavaca, M. (2000). Emery-Dreifuss muscular dystrophy: Anatomical-clinical correlation case report. Arquivos de Neuro-Psiquiatria, 58(4), 1123–1127. https://doi.org/10.1590/s0004-282x2000000600023
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