Fukuyama-type congenital muscular dystrophy (FCMD) and oc-dystroglycanopathy |
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| Authors: | 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 |
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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, and department of Neurology, Teikyo University School of Medicine, 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 0-linked mannose pi, 2-N-acetylglucosaminy ltransferase (POMGnTl), respectively. Recent studies have revealed that posttranslational modification of oc-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 a-dystroglycan are discussed. |
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| Keywords: | Fukuyama congenital muscular dystrophy (FCMD) muscle-eye-brain (MEB) disease fukutin dystro-glycan POMGnTl glycosylation neuronal migration laminin |
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