| A Case of Nemaline Myopathy |
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Bu Jin Kim1, Im Jeong Choi2, Dae Sung Kim3, Sang Ook Nam1 |
1Department of Pediatrics, Colleage of Medicine, Pusan University, Pusan, Korea
2Department of Pediatrics, Maryknoll Hospital, Pusan, Korea
3Department of Neurology, Colleage of Medicine, Pusan University, Pusan, Korea |
| Nemaline 근병증 1례 |
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김부진1, 최임정2, 김대성3, 남상욱1 |
1부산대학교 의과대학 소아과학교실
2부산 메리놀병원 소아과
3부산대학교 의과대학 신경과학교실 |
Correspondence:
Sang Ook Nam, Email: weareone@hyowon.pusan.ac.kr
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| Abstract |
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Childhood onset nemaline myopathy, first described in 1963 by Shy, et al and Conen, et al, is rare congenital myopathy, characterized by nonprogressive or slowly progressive muscle weakness associated with rod-like structures in muscle fibers, often with dysmorphic features. This myopathy was confirmed by muscle biopsy. The light microscopic features noted generally small round fibers that showed variation in size and occasional internal nuclei and characteristic rod bodies that could be demonstrated in the longitudinal sections stained with modified Gomori trichrome stain. Electromicroscopically there were accumulations of numerous irregular electron dense materials scattered between the myofibrils, particularly under the sarcolemma and enlargement and streamimg of the Z disk. We report a case of childhood onset nemaline myopathy in Korea in a 7 year- old boy who had nonprogressive muscle weakness of the limbs with a waddling gait. |
| Key Words:
Nemaline myopathy |
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