Nemaline Myopathy (NM)

Nemaline Myopathy(来自ICD-11)
别称:
Rod Myopathy
Nemaline Body Disease
Nemaline Rod Myopathy
Myopathies, Nemaline
Myopathy, Nemaline
Rod Body Disease
Nem
Nm
Nemaline Rod Disease
Myopathies Nemaline
Rod-Body Myopathy
Nemaline Bodies
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nemaline Myopathy, also known as rod myopathy, is related to nemaline myopathy 8 and nemaline myopathy 2. An important gene associated with Nemaline Myopathy is NEB (Nebulin), and among its related pathways/superpathways are Cell differentiation - expanded index and Striated muscle contraction pathway. The drugs D-Tyrosine and Salbutamol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and heart.
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相关ID:
MESH:D017696
ICD11:1996502540

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
AD
All ages
1-9/100000
8
47
49

疾病表征

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表征
HPO概率
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基因 & 突变

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靶点药物

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临床阶段
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疾病模型

类型
名称
MGI
相关基因
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文献报道

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