Fukuyama‐type congenital muscular dystrophy (FCMD) and α‐dystroglycanopathy
Open Access
- 1 June 2003
- journal article
- review article
- Published by Wiley in Congenital Anomalies
- Vol. 43 (2) , 97-104
- https://doi.org/10.1111/j.1741-4520.2003.tb01033.x
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.Keywords
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