Fukutin and α-dystroglycanopahties

Tatsushi Toda, T. Chiyonobu, H. Xiong, M. Tachikawa, K. Kobayashi, H. Manya, S. Takeda, M. Taniguchi, H. Kurahashi, T. Endo

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18 Citations (Scopus)

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. We identified the gene for FCMD and MEB, which encodes the fukutin protein and the protein O-linked mannose β1, 2-N-acetylglucosaminyltransferase (POMGnT1), respectively. Recent studies have revealed that posttranslational modification of α-dystroglycan is associated with these congenital muscular dystrophies with brain malformations. All are characterized by hypoglycosylated α-dystroglycan. Fukutin's function and the relation with other α-dystroglycanopathies are discussed.

Original languageEnglish
Pages (from-to)60-63
Number of pages4
JournalActa Myologica
Volume24
Issue number2
Publication statusPublished - 10-2005

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

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    Toda, T., Chiyonobu, T., Xiong, H., Tachikawa, M., Kobayashi, K., Manya, H., Takeda, S., Taniguchi, M., Kurahashi, H., & Endo, T. (2005). Fukutin and α-dystroglycanopahties. Acta Myologica, 24(2), 60-63.