J Korean Neurol Assoc.
1992 Sep;10(3):388-394.
A Case of Fukuyama Congenital Muscular Dystrophy
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Seoul National University.
- 2Department of Radiology, College of Medicine, Seoul National University.
- 3Department of Pathology, College of Medicine, Seoul National University.
Abstract
- Fukuyama congenital muscular dystrophy, first described by Fukuyama et al. In 1960, is an autosomal recessively inherited muscular dystrophy associated with severe mental retardation. We experienced a case of Fukuyama congenital muscular dystrophy in a 4 year and 11 month old girl, who showed hypotonia at birth, muscle weakness, contractures of both ankle joints, severe mental retardation, elevated muscle enzymes, myopathic EMG findings, dystrophic features on muscle biopsy, and agyria-pachygyria complex with heterotopia of gray matter on brain MRI. To our knowledge, Fukuyama congenital musclar dystrophy has not yet been reported in Korea.
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