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The Korean Journal of Pathology 1999;33(4): 303-306.
Congenital Fiber Type Disproportion Myopathy: A case report .
Sung Hye Park, Kwang Kuk Kim, Suk Yoon Kang, Shin Kwang Kang
1Department of Pathology, Ulsan University College of Medicine, Seoul 138-736, Korea.
2Department of Neurology, Ulsan University College of Medicine, Seoul 138-736, Korea.
Authors report a typical case of congenital fiber type disproportion (CFTD) with unique clinicopathologic characteristics. The patient was a 13-year-old boy who presented with weakness of lower extremities, especially proximal muscle, since his infancy. He has suffered from severe scoliosis which got worse since the age of 12. He showed mild dysarthria, high arched palate, and fish face. All routine laboratory data were within normal limits. EMG findings suggested myopathy. The muscle biopsy revealed fiber type disproportion with type 1 predominance. While most of the type 1 myofibers were atrophic or normal in size, the type 2 fibers showed universal hypertrophy. The difference of mean diameter between the larger and the smaller fibers was 27.9%. The patient's clinicopathologic settings fulfilled the criteria of CFTD.
Key Words: Congenital fiber type disproportion; Congenital myopathy
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