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J Korean Neurol Assoc. 2004;22(6):683-685.
- A Case of Congenital Fiber Type Disproportion
Associated with External Ophthalmoplegia
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Jae-Wook Jo
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Department of Neurology and Pathology*, Pusan National University School of Medicine, Busan, Korea
- 외안근마비를 동반한 선천성근섬유형불균형증 1예
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조재욱, 조한진 김대성 정대수 박규현 이창훈
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부산대학교 의과대학 신경과학교실, 병리학교실*
- Abstract
- Congenital fiber type disproportion (CFTD) is a form of congenital myopathy characterized by histologic findings of the smallness of type 1 fiber and type 1 fiber predominance. It is usually associated with hypotonia and motor weakness of the limb muscles at birth or the neonatal period. We report a 6-year-old girl with limb weakness and ophthalmoplegia, whose muscle pathology showed the classic pattern of CFTD without any other abnormality. Key Words: Congenital nonprogressive myopathy, Congenital fiber type disproportion, External ophthalmoplegia
Keywords :
- 초록
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