Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Alias:
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Plectin Deficiency
Muscular Dystrophy, Limb-Girdle, Type 2q
Lgmd2q
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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
常染色体隐性肢带型肌肉萎缩症2q型,又称由于粘连蛋白缺乏引起的常染色体隐性肢带型肌肉萎缩症,与肌肉萎缩症、肢带型、常染色体隐性17和单纯表皮松解症5d、泛中度、常染色体隐性有关,症状包括全身肌肉无力。与常染色体隐性肢带型肌肉萎缩症2q相关的基因是PLEC(粘连蛋白)。相关组织包括肺和皮肤,相关表型是肌肉。
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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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17
104
23

Medical Symptom

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Gene & Mutation

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Disease Model

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Publications
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References Literature

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