Spinal Muscular Atrophy with Lower Extremity Predominant

Alias:

Spinal Muscular Atrophy with Lower Extremity Predominance

Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy with Contractures

Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures

Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

Atrophy, Muscular, Spinal, Lower Extremity Predominant

Spinal Muscular Atrophy, Lower Extremity, Dominant

Kugelberg-Welander Syndrome, Autosomal Dominant

Sma-Led

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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

脊髓性肌萎缩合并下肢优势型，也称为脊髓性肌萎缩合并下肢优势型，与脊髓性肌萎缩合并下肢优势型1和关节挛缩综合症有关。与脊髓性肌萎缩合并下肢优势型相关的重要基因是BICD2（BICD Cargo Adaptor 2），其相关通路/超级通路包括囊泡介导的运输和高尔基体至内质网逆行运输。相关组织包括骨骼肌和大脑，相关表型为神经系统和行为/神经。

Related ID：

MALACARDS：SPN460