Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil

Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil

Autor Zanoteli, E. Google Scholar
Rocha, JCC Google Scholar
Narumia, L. K. Google Scholar
Fireman, MAT Google Scholar
Moura, L. S. Google Scholar
Oliveira, ASB Google Scholar
Gabbai, A. A. Google Scholar
Fukuda, Y. Google Scholar
Kinoshita, M. Google Scholar
Toda, T. Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Otsuka Pharmaceut Co Ltd
Osaka Univ
Resumo Introduction 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. Case report 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. Discussion - This case report emphasizes the importance to consider FCMD in Japanese people living in other countries.
Palavra-chave Fukuyama disease
fukutin gene
congenital muscular dystrophy
brain dysplasia
skeletal muscle
Idioma Inglês
Data de publicação 2002-08-01
Publicado em Acta Neurologica Scandinavica. Copenhagen: Blackwell Munksgaard, v. 106, n. 2, p. 117-121, 2002.
ISSN 0001-6314 (Sherpa/Romeo, fator de impacto)
Publicador Blackwell Munksgaard
Extensão 117-121
Fonte http://dx.doi.org/10.1034/j.1600-0404.2002.01318.x
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000176513400008
Endereço permanente http://repositorio.unifesp.br/handle/11600/26939

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