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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
非罕见病
Congenital Myopathy 10b, Mild Variant (CMYP10B)
Alias:
Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset, Mild Variant
Cmyp10b
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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
先天性肌病10b,轻度变异型,也称为肌病、无反应性、呼吸困难和吞咽困难,早期轻度变异型,与先天性肌病10a,严重变异型有关。与先天性肌病10b,轻度变异型有关的重要基因是MEGF10(多个EGF样域10)。附属组织包括骨骼肌,相关表型为脊柱侧凸和吞咽困难。
Related ID:
MALACARDS:CNG660
OMIM:620249
MESH:D020512
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
7
7
CNG660
Medical Symptom
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No data available
Gene & Mutation
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No data available
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Name
MGI
Related Gene
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No data available
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