-transparent.png){kind=logo}
Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy. 2003
Tatsushi Toda, and
Kazuhiro Kobayashi, and
Satoshi Takeda, and
Junko Sasaki, and
Hiroki Kurahashi, and
Hiroki Kano, and
Masaji Tachikawa, and
Fan Wang, and
Yoshitaka Nagai, and
Kiyomi Taniguchi, and
Mariko Taniguchi, and
Yoshihide Sunada, and
Toshio Terashima, and
Tamao Endo, and
Kiichiro Matsumura
Division of Functional Genomics, Department of Post-Genomics and Diseases, Osaka University Graduate School of Medicine, Suita, Osaka 565-0871, Japan. toda@clgene.med.osaka-u.ac.jp
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.
Related Publications
Tatsushi Toda, and
Kazuhiro Kobayashi, and
Satoshi Takeda, and
Junko Sasaki, and
Hiroki Kurahashi, and
Hiroki Kano, and
Masaji Tachikawa, and
Fan Wang, and
Yoshitaka Nagai, and
Kiyomi Taniguchi, and
Mariko Taniguchi, and
Yoshihide Sunada, and
Toshio Terashima, and
Tamao Endo, and
Kiichiro Matsumura
November 2005,
Rinsho shinkeigaku = Clinical neurology,
Tatsushi Toda, and
Kazuhiro Kobayashi, and
Satoshi Takeda, and
Junko Sasaki, and
Hiroki Kurahashi, and
Hiroki Kano, and
Masaji Tachikawa, and
Fan Wang, and
Yoshitaka Nagai, and
Kiyomi Taniguchi, and
Mariko Taniguchi, and
Yoshihide Sunada, and
Toshio Terashima, and
Tamao Endo, and
Kiichiro Matsumura
August 2008,
Rinsho shinkeigaku = Clinical neurology,
Tatsushi Toda, and
Kazuhiro Kobayashi, and
Satoshi Takeda, and
Junko Sasaki, and
Hiroki Kurahashi, and
Hiroki Kano, and
Masaji Tachikawa, and
Fan Wang, and
Yoshitaka Nagai, and
Kiyomi Taniguchi, and
Mariko Taniguchi, and
Yoshihide Sunada, and
Toshio Terashima, and
Tamao Endo, and
Kiichiro Matsumura
April 1997,
Brain & development,
Tatsushi Toda, and
Kazuhiro Kobayashi, and
Satoshi Takeda, and
Junko Sasaki, and
Hiroki Kurahashi, and
Hiroki Kano, and
Masaji Tachikawa, and
Fan Wang, and
Yoshitaka Nagai, and
Kiyomi Taniguchi, and
Mariko Taniguchi, and
Yoshihide Sunada, and
Toshio Terashima, and
Tamao Endo, and
Kiichiro Matsumura
June 1987,
Rinsho shinkeigaku = Clinical neurology,
Tatsushi Toda, and
Kazuhiro Kobayashi, and
Satoshi Takeda, and
Junko Sasaki, and
Hiroki Kurahashi, and
Hiroki Kano, and
Masaji Tachikawa, and
Fan Wang, and
Yoshitaka Nagai, and
Kiyomi Taniguchi, and
Mariko Taniguchi, and
Yoshihide Sunada, and
Toshio Terashima, and
Tamao Endo, and
Kiichiro Matsumura
May 1985,
No to hattatsu = Brain and development,
Tatsushi Toda, and
Kazuhiro Kobayashi, and
Satoshi Takeda, and
Junko Sasaki, and
Hiroki Kurahashi, and
Hiroki Kano, and
Masaji Tachikawa, and
Fan Wang, and
Yoshitaka Nagai, and
Kiyomi Taniguchi, and
Mariko Taniguchi, and
Yoshihide Sunada, and
Toshio Terashima, and
Tamao Endo, and
Kiichiro Matsumura
October 1982,
The Journal of pediatrics,
Tatsushi Toda, and
Kazuhiro Kobayashi, and
Satoshi Takeda, and
Junko Sasaki, and
Hiroki Kurahashi, and
Hiroki Kano, and
Masaji Tachikawa, and
Fan Wang, and
Yoshitaka Nagai, and
Kiyomi Taniguchi, and
Mariko Taniguchi, and
Yoshihide Sunada, and
Toshio Terashima, and
Tamao Endo, and
Kiichiro Matsumura
October 1982,
Archives of neurology,
Tatsushi Toda, and
Kazuhiro Kobayashi, and
Satoshi Takeda, and
Junko Sasaki, and
Hiroki Kurahashi, and
Hiroki Kano, and
Masaji Tachikawa, and
Fan Wang, and
Yoshitaka Nagai, and
Kiyomi Taniguchi, and
Mariko Taniguchi, and
Yoshihide Sunada, and
Toshio Terashima, and
Tamao Endo, and
Kiichiro Matsumura
January 2002,
Revista de neurologia,
Tatsushi Toda, and
Kazuhiro Kobayashi, and
Satoshi Takeda, and
Junko Sasaki, and
Hiroki Kurahashi, and
Hiroki Kano, and
Masaji Tachikawa, and
Fan Wang, and
Yoshitaka Nagai, and
Kiyomi Taniguchi, and
Mariko Taniguchi, and
Yoshihide Sunada, and
Toshio Terashima, and
Tamao Endo, and
Kiichiro Matsumura
December 2000,
Rinsho shinkeigaku = Clinical neurology,
Tatsushi Toda, and
Kazuhiro Kobayashi, and
Satoshi Takeda, and
Junko Sasaki, and
Hiroki Kurahashi, and
Hiroki Kano, and
Masaji Tachikawa, and
Fan Wang, and
Yoshitaka Nagai, and
Kiyomi Taniguchi, and
Mariko Taniguchi, and
Yoshihide Sunada, and
Toshio Terashima, and
Tamao Endo, and
Kiichiro Matsumura
January 2000,
Ryoikibetsu shokogun shirizu,
