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.
|出版物ステータス||Published - 10-2005|
All Science Journal Classification (ASJC) codes
- Cardiology and Cardiovascular Medicine