A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit

Naomi Hino-Fukuyo, Kazuhiro Haginoya, Yukiko K. Hayashi, Ichizo Nishino, Terumi Murakami, Ikuya Nonaka, Kaoru Togashi, Souichiro Tanaka, Masaru Takayanagi, Hiroyuki Yokoyama, Osamu Sakamoto, Toshiaki Abe, Tatsushi Toda, Kazuie Iinuma

研究成果: Article査読

5 被引用数 (Scopus)

抄録

A boy had the clinical features of congenital muscular dystrophy with a very mild mental deficit. A muscle biopsy at one year of age showed the typical findings of Fukuyama-type congenital muscular dystrophy, including selective loss of immunoreactions for alpha dystroglycan. Magnetic resonance imaging showed no findings suggestive of migration disorders. The diagnosis of Fukuyama-type congenital muscular dystrophy was confirmed by a molecular assay at 8 years of age, and his haplotype analysis was heterozygous. At 9 years of age, his FIQ on the Wechsler Scale for Children revealed 69, while his IQ on the Tanaka Binnet scale of intelligence was 97. In this report the relationship between mild clinical condition of the studied case and its genotype is discussed.

本文言語English
ページ(範囲)274-276
ページ数3
ジャーナルNeuromuscular Disorders
16
4
DOI
出版ステータスPublished - 2006 4

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 神経学
  • 臨床神経学
  • 遺伝学(臨床)

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