J Korean Neurol Assoc.
2004 Dec;22(6):683-685.
A Case of Congenital Fiber Type Disproportion Associated with External Ophthalmoplegia
- Affiliations
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- 1Department of Neurology, Pusan National University School of Medicine, Busan, Korea. dskim@pusan.ac.kr
- 2Department of Pathology, Pusan National University School of Medicine, Busan, Korea.
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.
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