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中文Lethal Congenital Contracture Syndrome 4 (LCCS4)
Alias:
Lccs4
Contracture Syndrome, Lethal, Congenital, Type 4
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致死性先天性挛缩综合症4，也称为lccs4，与致死性先天性挛缩综合症和远端关节挛缩有关。与致死性先天性挛缩综合症4有关的重要基因是MYBPC1（肌球蛋白结合蛋白C1），其相关通路/超级通路包括心传导和带状肌收缩通路。附属组织包括骨骼肌，相关表型为呼吸功能不全和屈曲挛缩
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