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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