Fukuyama Congenital Muscular Dystrophy in a Young Infant
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초록
Fukuyama congenital muscular dystrophy is an autosomal recessive disorder characterized by muscular dystrophy with central nervous system and ocular malformation. Fukutin gene mutations are the most common genetic cause of congenital muscular dystrophy with α-dystroglycanopathy and compound heterozygosity of the retrotransposal insertion; the novel pseudoexon mutation is the most prevalent genotype in Korea. We report the youngest documented Korean case of Fukuyama congenital muscular dystrophy, in a 5-month-old boy who presented with weak sucking power, muscle weakness and hypotonia. The findings of brain magnetic resonance imaging were specific to Fukuyama congenital muscular dystrophy and molecular analysis revealed compound heterozygosity of retrotransposal insertion and deep intronic mutation in the fukutin gene.
Abstract
Fukuyama congenital muscular dystrophy is an autosomal recessive disorder characterized by muscular dystrophy with central nervous system and ocular malformation. Fukutin gene mutations are the most common genetic cause of congenital muscular dystrophy with α-dystroglycanopathy and compound heterozygosity of the retrotransposal insertion; the novel pseudoexon mutation is the most prevalent genotype in Korea. We report the youngest documented Korean case of Fukuyama congenital muscular dystrophy, in a 5-month-old boy who presented with weak sucking power, muscle weakness and hypotonia. The findings of brain magnetic resonance imaging were specific to Fukuyama congenital muscular dystrophy and molecular analysis revealed compound heterozygosity of retrotransposal insertion and deep intronic mutation in the fukutin gene.
참고문헌 (17)
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