Myopathy, Myofibrillar, 4 (MFM4)

Alias:
Myofibrillar Myopathy 4
Markesbery-Griggs Distal Myopathy
Mfm4
Myopathy, Myofibrillar, Type 4, Zasp-Related
Distal Myopathy Markesbery-Griggs Type
Myopathy, Myofibrillar, Zasp-Related
Zaspopathy
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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
肌病,肌原纤维,4型,也称为肌原纤维肌病4型,与晚发性远端肌病、马科斯伯里-格里格斯类型和宫崎肌肉萎缩症有关。与肌病,肌原纤维,4型相关的基因是LDB3(LIM域结合3),其相关通路/超级通路包括有条纹肌肉收缩通路和心肌细胞信号通路汇聚到肌球蛋白。相关组织包括骨骼肌和心脏,相关表型为血清肌酸激酶浓度升高和EMG:肌病异常。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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No Data Found!
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