Congenital Myopathy 3 with Rigid Spine (CMYP3)

先天性肌病3型伴有强直性脊柱(来自ICD-11)

别称:

Rigid Spine Syndrome

Eichsfeld Type Congenital Muscular Dystrophy

Rigid Spine Muscular Dystrophy 1

Classic Multiminicore Myopathy

Classic Multiminicore Disease

Classic Mmd

Rsmd1

Mdrs1

Rss

Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity

Desmin-Related Myopathy with Mallory Body-Like Inclusions

Desmin-Related Myopathy with Mallory Bodies

Rigid Spine Congenital Muscular Dystrophy

Early-Onset Desmin-Related Myopathy

Sepn1-Related Myopathy

Cmyp3

Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity

Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity

Muscular Dystrophy, Congenital, Eichsfeld Type, Formerly

Desmin-Related Myopathy with Mallory Bodies, Formerly

Multiminicore Disease, Severe Classic Form, Formerly

Multicore Myopathy, Severe Classic Form, Formerly

Minicore Myopathy, Severe Classic Form, Formerly

Congenital Muscular Dystrophy with Rigid Spine

Myopathy, Congenital, Type 3, with Rigid Spine

Congenital Muscular Dystrophy Eichsfeld Type

Severe Classic Form Multiminicore Disease

Multiminicore Disease Severe Classic Form

Severe Classic Form Multicore Myopathy

Multicore Myopathy Severe Classic Form

Severe Classic Form Minicore Myopathy

Minicore Myopathy Severe Classic Form

Muscular Dystrophy, Rigid Spine, 1

Myopathy, Sepn1-Related

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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3伴僵硬脊柱，又称僵硬脊柱综合症，与肌营养不良、先天性、lmna相关和先天性肌病有关，症状包括面部偏瘫和全身肌肉无力。与先天性肌病3伴僵硬脊柱有关的重要基因是SELENON（硒蛋白N），其相关通路/超级通路包括心脏传导和DREAM抑制和杜氏醇表达。附属组织包括骨骼肌和骨，相关表型为脊柱侧弯和呼吸功能不全。

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