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The rigid spine syndrome and Emery-Dreifuss muscular dystrophy |
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| Authors: | Ikuo Goto Shinji Ishimoto Takeshi Yamada Hideo Hara Yoshigoro Kuroiwa |
| Affiliation: | 1. Laboratory of Cell Biology and Neurobiology, Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, 27100 Pavia, Italy;2. Laboratory of Biochemistry, Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, 27100 Pavia, Italy;3. Institute of Molecular Genetics IGM-CNR, 27100 Pavia, Italy;1. Creative Research Initiative Center for Concurrent Control of Emphysema and Lung Cancer, College of Pharmacy, Seoul National University, Seoul 08826, Republic of Korea;2. College of Pharmacy, Seoul National University, Seoul 08826, Republic of Korea;3. Department of Molecular Medicine and Biopharmaceutical Science, Graduate School of Convergence Science and Technology, and College of Pharmacy, Seoul National University, Seoul 08826, Republic of Korea;4. Faculty of Pharmacy, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Viet Nam;1. State Key Laboratory of Environmental Chemistry and Ecotoxicology, Research Center for Eco-Environmental Sciences, Chinese Academy of Sciences, Beijing, 100085, China;2. College of Resources and Environment, University of Chinese Academy of Sciences, Beijing, 100049, China;3. Institute of Environment and Health, Jianghan University, Wuhan, 430056, China |
| Abstract: | We present five patients, three of whom suffered from a rigid spine syndrome and two from Emery-Dreifuss muscular dystrophy. One patient with rigid spine syndrome showed a nonprogressive course, normal cardiac rhythm and mild myopathic changes in muscle histology, while in the other two patients there was a rapidly progressive course, sinus tachycardia without cardiac conduction defects and marked fiber necrosis in muscle histology. The two patients suffering from Emergy-Dreifuss muscular dystrophy showed a very mildly progressing course, myopathic changes in muscle histology, cardiac conduction defects and deviations in electrocardiograms. These findings show that rigid spine syndrome can be distinguished from Emery-Dreifuss muscular dystrophy. |
| Keywords: | Rigid spine syndrome Emery-Dreifuss muscular dystrophy ECG |
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