title: Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy.
abstract: Fukuyama congenital muscular dystrophy (FCMD) is an autosomal recessive disorder with early onset severe muscular dystrophy and neuronal migration disturbances. Although FCMD is the second most common muscular dystrophy in Japan, there has been no report of FCMD in Korea. Recently, we found a 10-year-old Korean boy with characteristic clinical features of FCMD. A PCR-based diagnostic method to detect the 3-kb retrotransposal insertion in the 3' non-coding region of the fukutin (FKTN) gene revealed that the patient was homozygous for the insertion mutation and his parents were heterozygous carriers of the same mutation. To the best of our knowledge, this is the first report of a clinically and genetically confirmed Korean patient with FCMD and the first non-Japanese patient carrying homozygous founder insertion mutation.
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Jeehun
authors.initials: J
authors.lastname: Lee
authors.forename: Bo Lyun
authors.initials: BL
authors.lastname: Lee
authors.forename: Munhyang
authors.initials: M
authors.lastname: Lee
authors.forename: Ji Hye
authors.initials: JH
authors.lastname: Kim
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki