Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures (MRRSDC)

常染色体隐性肌病伴有强直性脊柱和远端关节挛缩(来自ICD-11)

别称:

Lgmd2y

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 2y

Mrrsdc

Autosomal Recessive Muscular Dystrophy Due to Torsin-1a-Interacting Protein 1 Deficiency

Muscular Dystrophy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures

Muscular Dystrophy with Progressive Weakness, Distal Contractures and Rigid Spine

Autosomal Recessive Muscular Dystrophy Due to Lap1b Deficiency

Tor1aip1-Related Limb-Girdle Muscular Dystrophy

Dystrophy, Muscular, Limb-Girdle, Type Y

Limb-Girdle Muscular Dystrophy 2y

Tor1aip1-Related Lgmd

Lgmd Type 2y

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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

肌病，常染色体隐性，伴有脊柱僵硬和远端关节挛缩，也称为lgmd2y，与肌营养不良，肢带，常染色体隐性2和肢带肌营养不良有关。与肌病，常染色体隐性，伴有脊柱僵硬和远端关节挛缩有关的重要基因是TOR1AIP1（Torsin 1A Interacting Protein 1）。附属组织包括骨骼肌，相关表型为肌肉无力和肌肉纤维直径的增加。

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