title: Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil.
abstract: BACKGROUND
  We present herein clinical, histological and magnetic resonance imaging (MRI) findings in a patient with Fukuyama-type congenital muscular dystrophy (FCMD). He is the first case report in the Japanese population living in Brazil.
  
  
  METHODS
  The child presented with neonatal hypotonia, delayed motor abilities and speech, seizures, cerebral and cerebellar gyrus abnormalities with signal intensity change in the white matter by MRI, high serum level of creatinephosphokinase (CK), and dystrophic skeletal muscle with normal merosin, alpha-sarcoglycan and dystrophin expression. The fukutin gene study showed one founder 3-kb retrotransposal insertion in the 3'-non-coding region, and in the other allele no mutation was detected after screening all exons and flanking introns by sequencing.
  
  
  CONCLUSIONS
  This case report emphasizes the importance to consider FCMD in Japanese people living in other countries.
authors.affiliation: Department of Neurology, Universidade Federal de São Paulo, Brazil. zanoteli@terra.com.br
authors.forename: E
authors.initials: E
authors.lastname: Zanoteli
authors.forename: J C C
authors.initials: JC
authors.lastname: Rocha
authors.forename: L K
authors.initials: LK
authors.lastname: Narumia
authors.forename: M A T
authors.initials: MA
authors.lastname: Fireman
authors.forename: L S
authors.initials: LS
authors.lastname: Moura
authors.forename: A S B
authors.initials: AS
authors.lastname: Oliveira
authors.forename: A A
authors.initials: AA
authors.lastname: Gabbai
authors.forename: Y
authors.initials: Y
authors.lastname: Fukuda
authors.forename: M
authors.initials: M
authors.lastname: Kinoshita
authors.forename: T
authors.initials: T
authors.lastname: Toda
mesh_terms: D001921:Brain / Q000473:pathology; D001938:Brazil; D002675:Child, Preschool; D006801:Humans; D007564:Japan / Q000208:ethnology; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics / Q000473:pathology*; D011506:Proteins / Q000235:genetics
chemical_list: C113587:FKTN protein, human; D008565:Membrane Proteins; D011506:Proteins