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 journalArticle

5 Citations (Scopus)

Abstract

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
Volume28
Issue number8
DOIs
Publication statusPublished - Sep 2006

Fingerprint

Walker-Warburg Syndrome
Genes
Chromosomes
Dystroglycans
Mutation
Insertional Mutagenesis
Muscle Weakness
Glycosylation
Intellectual Disability
Haplotypes
Molecular Biology
Magnetic Resonance Imaging
Proteins

Keywords

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

ASJC Scopus subject areas

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

Cite this

The mildest known case of Fukuyama-type congenital muscular dystrophy. / Akiyama, Tomoyuki; Ohtsuka, Yoko; Takata, Tsutomu; Hattori, Junri; Kawakita, Yukiko; Saito, Kayoko.

In: Brain and Development, Vol. 28, No. 8, 09.2006, p. 537-540.

Research output: Contribution to journalArticle

Akiyama, T, Ohtsuka, Y, Takata, T, Hattori, J, Kawakita, Y & Saito, K 2006, 'The mildest known case of Fukuyama-type congenital muscular dystrophy', Brain and Development, vol. 28, no. 8, pp. 537-540. https://doi.org/10.1016/j.braindev.2006.02.003
Akiyama, Tomoyuki ; Ohtsuka, Yoko ; Takata, Tsutomu ; Hattori, Junri ; Kawakita, Yukiko ; Saito, Kayoko. / The mildest known case of Fukuyama-type congenital muscular dystrophy. In: Brain and Development. 2006 ; Vol. 28, No. 8. pp. 537-540.
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