Muscular Dystrophy-Dystroglycanopathy , Type a, 4 (MDDGA4)

先天性伴脑及眼异常的肌营养不良-肌营养不良蛋白聚糖病A4型(来自ICD-11)

别称:

Fukuyama Congenital Muscular Dystrophy

Fcmd

Congenital Muscular Dystrophy, Fukuyama Type

Fukuyama Type Congenital Muscular Dystrophy

Fktn-Related Congenital Muscular Dystrophy

Mddga4

Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A4

Muscular Dystrophy, Congenital, with Central Nervous System Involvement

Muscular Dystrophy, Congenital Progressive, with Mental Retardation

Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Fktn-Related

Dystrophy, Muscular, Dystroglycanopathy , Type A4

Muscular Dystrophy, Congenital, Fukuyama Type

Congenital Muscular Dystrophy Fukuyama Type

Cerebromuscular Dystrophy, Fukuyama Type

Cerebromuscular Dystrophy Fukuyama Type

Polymicrogyria with Muscular Dystrophy

Micropolygyria with Muscular Dystrophy

Muscle-Eye-Brain Disease Fktn-Related

Walker-Warburg Syndrome Fktn-Related

Fukuyama-Type Muscular Dystrophy

Fukuyama Muscular Dystrophy

Fukuyama Syndrome

Fukuyama Cmd

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

肌营养不良-肌糖原病，类型a，4，也被称为富山先天性肌营养不良，与扩张型心肌病1x和脑回发育不全2有关，症状包括癫痫发作。与肌营养不良-肌糖原病，类型a，4有关的重要基因是FKTN（富山蛋白），其相关通路/超通路包括蛋白质代谢和细胞外基质组织。相关组织包括眼睛和大脑，相关表型为步态障碍和肌张力低下。

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