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

Research output: Contribution to journalReview articlepeer-review

56 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. 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.

Original languageEnglish
Pages (from-to)97-104
Number of pages8
JournalCongenital anomalies
Volume43
Issue number2
DOIs
Publication statusPublished - 06-2003
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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