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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Autosomal Recessive Limb-Girdle Muscular Dystrophy
Alias:
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
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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
常染色体隐性肢带型肌营养不良症,又称肌营养不良症、肢带型、常染色体隐性、2型肌营养不良症和2a型常染色体隐性肢带型肌营养不良症。与常染色体隐性肢带型肌营养不良症相关的基因是DYSF(肌营养不良蛋白),其相关通路/超级通路包括DREAM抑制和杜氏病毒性心肌炎。相关组织包括骨骼肌和眼睛,相关表型为肌肉和四肢/手指/尾巴
Related ID:
MALACARDS:ATS331
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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106
788
224
ATS331
Medical Symptom
#
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Description
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Orphanet Frequency
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Gene & Mutation
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Gene
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Mutations
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Name
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Category
Name
MGI
Related Gene
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