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Fukuyama congenital muscular dystrophy is one of the most common autosomal recessive disorders in the Japanese population, characterized by congenital muscular dystrophy in combination with cortical dysgenesis (micropolygyria). Recently, we have identified the gene responsible for fukuyama congenital muscular dystrophy on 9q31, which encodes a novel 461-amino-acid protein termed fukutin. Most Fukuyama...
Three Chinese patients, two boys and one girl, were afflicted with the typical clinical, myopathological and neuroradiological findings of Fukuyama congenital muscular dystrophy (FCMD). Polymorphism analysis of our patients did not reveal the founder haplotype (138-192-147-183 in D9S2105- D9S2170-D9S2171-D9S2107) of Japanese FCMD, even though one patient was descended from Japanese ancestry. Full...
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