Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.
Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.
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DOI：
10.1111/j.1741-4520.2003.tb01033.x
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发表时间：
2003-06-01
影响因子：
1.3
通讯作者：
Matsumura, Kiichiro
中科院分区：
文献类型：
--
作者：
Toda, Tatsushi;Kobayashi, Kazuhiro;Matsumura, Kiichiro
福山型先天性肌营养不良症(FCMD)、Walker-Warburg综合征(WWS)和肌肉-眼-脑(MEB)病是临床上相似的常染色体隐性遗传病，以先天性肌营养不良、无脑和眼畸形为特征。通过定位克隆，我们克隆了FCMD和MEB基因，它们分别编码1，2-N-乙酰氨基葡萄糖转移酶(POMGNT1)蛋白和O-连接甘露糖转移酶(POMGNT1)。最近的研究表明，α-肌营养不良多糖的翻译后修饰与这些先天性肌营养不良合并脑畸形有关。本文对福山型先天性肌营养不良症(FCMD)和其他伴有脑畸形的CMD及其与α-肌营养不良的关系进行了讨论。
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.