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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
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 (MC3DN8)
Alias:
Mitochondrial Complex Iii Deficiency Nuclear Type 8
Mc3dn8
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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
线粒体复合物III缺乏症,核型8,也称为线粒体复合物III缺乏症,核型8,其症状包括共济失调、嗜睡和肌肉无力。与线粒体复合物III缺乏症,核型8有关的重要基因是LYRM7(LYRmotif含7)。相关组织包括骨骼肌和大脑,相关表型为智力障碍和痉挛。
Related ID:
MALACARDS:MTC094
OMIM:615838
MESH:D017237
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
3
4
MTC094
Medical Symptom
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Description
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Orphanet Frequency
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Gene & Mutation
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Name
MGI
Related Gene
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Publications
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References Literature
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