J Korean Neurol Assoc.
1993 Dec;11(4):607-613.
A Familial Nemaline Myopathy
- Affiliations
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- 1Department of Neurology, College of Medicine, Inje University, Korea.
- 2Department of Pediatrics, College of Medicine, Inje University, Korea.
- 3Department of Pathology, College of Medicine, Inje University, Korea.
- 4Department of Neurology, College of Medicine, Yonsei University, Korea.
- 5Department of Pathology, College of Medicine, Yonsei University, Korea.
Abstract
- Nemaline myopathy is a rare congenital m opathy, characterized by nonprogressive or slowely progressive muscle weakness associated with rod-like structures in muscle fibers and characteristic dysmorphic features. We report the first farnilial nemaline myopathy in two generations of the same family, confirmed by muscle biospy in an 11-year-old boy and his mother. The patients had hypotonia and slowly progressive muscle weakness of the four limbs associated with characteristic facial dysmorphism and skeletal deformities. Light and electron microscopic study of a muscle biopsy showed numerous nemaline rods in both patients.
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