Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy |
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| Authors: | Toda Tatsushi Kobayashi Kazuhiro Takeda Satoshi Sasaki Junko Kurahashi Hiroki Kano Hiroki Tachikawa Masaji Wang Fan Nagai Yoshitaka Taniguchi Kiyomi Taniguchi Mariko Sunada Yoshihide Terashima Toshio Endo Tamao Matsumura Kiichiro |
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| Affiliation: | Division of Functional Genomics, Department of Post-Genomics and Diseases, Osaka University Graduate School of Medicine, Suita, Japan;Otsuka GEN Research Institute, Otsuka Pharmaceutical Co. Ltd., Tokushima, Japan;Department of Neurology, Kawasaki Medical School, Kurashiki, Japan;Department of Anatomy and Neurobiology, Kobe University Graduate School of Medicine, Kobe, Japan;Glycobiology Research Group, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan;Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan |
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| Abstract: | ABSTRACT 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 β1, 2-N-acetylgIucosaminy ltransferase (POMGnT1), respectively. Recent studies have revealed that posttranslational modification of α-dystro-glycan 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 α-dystroglycan are discussed. |
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| Keywords: | Fukuyama congenital muscular dystrophy (FCMD) muscle-eye-brain (MEB) disease fukutin dystro-glycan POMGnT1 glycosylation neuronal migration laminin |
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