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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
Congenital Myopathy 7a, Myosin Storage, Autosomal Dominant (CMYP7A)
Alias:
Myopathy, Myosin Storage, Autosomal Dominant
Msma
Scapuloperoneal Muscular Dystrophy
Myopathy with Lysis of Type I Myofibrils
Scapuloperoneal Syndrome, Myopathic Type
Autosomal Dominant Hyaline Body Myopathy
Cmyp7a
Spmm
Spmd
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures
Scapuloperoneal Muscular Dystrophy with Early Contractures
Myopathy, Hyaline Body, Autosomal Dominant
X-Linked Emery-Dreifuss Muscular Dystrophy
Autosomal Dominant Myosin Storage Myopathy
Erb Pseudohypertrophic Muscular Dystrophy
Hyaline Body Myopathy Autosomal Dominant
Myopathy, Scapuloperoneal, Myh7-Related
Scapuloperoneal Myopathy, Myh7-Related
Scapuloperoneal Myopathy Myh7-Related
Scapuloperoneal Dystrophy
Scapuloperoneal Syndrome
Myosin Storage Myopathy
Congenital Myopathy 7a
Erb Muscular Dystrophy
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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7a,肌球蛋白储存,常染色体显性,也称为肌病,肌球蛋白储存,常染色体显性,与透明体肌病和myh7相关的晚期肩胛骨-股骨肌病有关,症状包括鸭步。与先天性肌病7a,肌球蛋白储存,常染色体显性相关的基因是MYH7(肌球蛋白重链7)。在该疾病的背景下,已提到的药物有沙丁胺醇和子宫收缩剂。附属组织包括骨骼肌和肺,相关表型是emg:肌病异常和肩带肌肉无力。
Related ID:
MALACARDS:CNG645
OMIM:608358
MESH:D009135
ICD11:1224331149
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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11
72
30
CNG645
Medical Symptom
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Gene & Mutation
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