TY - JOUR
T1 - Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.
AU - Toda, Tatsushi
AU - Kobayashi, Kazuhiro
AU - Takeda, Satoshi
AU - Sasaki, Junko
AU - Kurahashi, Hiroki
AU - Kano, Hiroki
AU - Tachikawa, Masaji
AU - Wang, Fan
AU - Nagai, Yoshitaka
AU - Taniguchi, Kiyomi
AU - Taniguchi, Mariko
AU - Sunada, Yoshihide
AU - Terashima, Toshio
AU - Endo, Tamao
AU - Matsumura, Kiichiro
N1 - Copyright:
This record is sourced from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
PY - 2003/6
Y1 - 2003/6
N2 - 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.
AB - 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.
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U2 - 10.1111/j.1741-4520.2003.tb01033.x
DO - 10.1111/j.1741-4520.2003.tb01033.x
M3 - Review article
C2 - 12893968
AN - SCOPUS:1842467268
SN - 0914-3505
VL - 43
SP - 97
EP - 104
JO - Congenital anomalies
JF - Congenital anomalies
IS - 2
ER -