Fukuyama congenital muscular dystrophy(FCMD)is an autosomal recessive disorder first described by Fukuyama in 1960.1 It typically manifests with generalized muscle weakness and hypotonia from infancy,often requiring a...Fukuyama congenital muscular dystrophy(FCMD)is an autosomal recessive disorder first described by Fukuyama in 1960.1 It typically manifests with generalized muscle weakness and hypotonia from infancy,often requiring assistive devices for mobility.Patients frequently exhibit cognitive deficits,varying degrees of seizures,and specific neuroimaging,such as micropolygyria,hydrocephalus,and cerebellar malformations.展开更多
基金supported by National Key Research and Development Program of China(No.2022YFC2704700,2022YFC2704703 to L.M.S.)Shanghai Municipal Science and Technology Commission(No.21Y11907500,23DZ2303400 to L.M.S.)+1 种基金National Natural Science Foundation of China(No.82071656 to L.M.S.)NationalNatural Science Foundation of China(No.82171393 to H.X.).
文摘Fukuyama congenital muscular dystrophy(FCMD)is an autosomal recessive disorder first described by Fukuyama in 1960.1 It typically manifests with generalized muscle weakness and hypotonia from infancy,often requiring assistive devices for mobility.Patients frequently exhibit cognitive deficits,varying degrees of seizures,and specific neuroimaging,such as micropolygyria,hydrocephalus,and cerebellar malformations.
