Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.

Tatsushi Toda, Kazuhiro Kobayashi, Satoshi Takeda, Junko Sasaki, Hiroki Kurahashi, Hiroki Kano, Masaji Tachikawa, Fan Wang, Yoshitaka Nagai, Kiyomi Taniguchi, Mariko Taniguchi, Yoshihide Sunada, Toshio Terashima, Tamao Endo, Kiichiro Matsumura

研究成果: Review article

55 引用 (Scopus)

抜粋

Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. Through positional cloning, we identified the gene for FCMD and MEB, which encodes the fukutin protein and the protein O-linked mannose beta1, 2-N-acetylglucosaminy ltransferase (POMGnT1), respectively. Recent studies have revealed that posttranslational modification of alpha-dystroglycan is associated with these congenital muscular dystrophies with brain malformations. In this review Fukuyama-type congenital muscular dystrophy (FCMD), other CMDs with brain malformations, and their relation with alpha-dystroglycan are discussed.

元の言語English
ページ(範囲)97-104
ページ数8
ジャーナルCongenital anomalies
43
発行部数2
DOI
出版物ステータスPublished - 06-2003
外部発表Yes

    フィンガープリント

All Science Journal Classification (ASJC) codes

  • Medicine(all)

これを引用

Toda, T., Kobayashi, K., Takeda, S., Sasaki, J., Kurahashi, H., Kano, H., Tachikawa, M., Wang, F., Nagai, Y., Taniguchi, K., Taniguchi, M., Sunada, Y., Terashima, T., Endo, T., & Matsumura, K. (2003). Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy. Congenital anomalies, 43(2), 97-104. https://doi.org/10.1111/j.1741-4520.2003.tb01033.x