The mildest known case of Fukuyama-type congenital muscular dystrophy

Tomoyuki Akiyama, Yoko Ohtsuka, Tsutomu Takata, Junri Hattori, Yukiko Kawakita, Kayoko Saito

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


We present a 14-year-old boy with Fukuyama-type congenital muscular dystrophy (FCMD) who shows the mildest muscle weakness ever reported with this affliction and exceptionally mild mental retardation, but who has intractable epilepsy. Magnetic resonance imaging showed the typical abnormalities of FCMD. Molecular genetic analyses revealed a 3 kb insertion mutation in the fukutin gene heterozygously. We could find no mutation in the coding region of the fukutin gene in the chromosome without a 3 kb insertion. The most probable mechanism of clinical manifestation in this patient could be either a mutation in the noncoding regions of the fukutin gene on the chromosome without the ancestral founder haplotype of FCMD, or an error in the process of transcription or translation. Another possibility is the abnormalities in other genes involved in the glycosylation of α-dystroglycan, such as Fukutin-related protein and LARGE genes.

Original languageEnglish
Pages (from-to)537-540
Number of pages4
JournalBrain and Development
Issue number8
Publication statusPublished - Sep 2006


  • Brain malformation
  • Clinical spectrum
  • Epilepsy
  • Fukuyama-type congenital muscular dystrophy
  • Molecular genetic analysis
  • West syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology


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