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中文Spinal Muscular Atrophy, Type Iv (SMA4)
Alias:
Sma4
Spinal Muscular Atrophy, Adult Form
Spinal Muscular Atrophy 4
Adult Spinal Muscular Atrophy
Spinal Muscular Atrophy-4
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive
Spinal Muscular Atrophy Proximal Adult Autosomal Recessive
Proximal Spinal Muscular Atrophy Type 4
Spinal Muscular Atrophy Adult Form
Atrophy, Muscular, Spinal, Type Iv
Spinal Muscular Atrophy Type Iv
Myelopathic Muscular Atrophy
Sma Type Iv
Sma Type 4
Sma-Iv
Sma Iv
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脊髓性肌萎缩症，类型IV，也称为SMA4，与脊髓性肌萎缩症和运动神经元疾病有关，症状包括手部震颤。与脊髓性肌萎缩症，类型IV有关的重要基因是SMN1（运动神经元1，端粒），其相关通路/超级通路包括自噬通路。附属组织包括脊髓和大脑，相关表型为环状空泡和类型1肌肉纤维占优势。
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