Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 (LGMDR5)

常染色体隐性肢带型肌营养不良5型(来自ICD-11)

别称:

Muscular Dystrophy, Limb-Girdle, Type 2c

Lgmdr5

Lgmd2c

Scarmd

Dmda1

Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type

Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type

Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type

Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1

Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 1

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Dystrophy, Muscular, Limb-Girdle, Type 2c

Muscular Dystrophy, Duchenne-Like

Sarcoglycan, Gamma, Deficiency of

Limb-Girdle Muscular Dystrophy 2c

Adhalin Deficiency, Secondary

Sarcoglycan Gamma Deficiency

Maghrebian Myopathy

Dmda

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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

肌肉萎缩性侧索硬化症，肢带型，常染色体隐性5型，也被称为肌肉萎缩性侧索硬化症，肢带型，2c型，与常染色体隐性肢带型肌肉萎缩症2c型和常染色体隐性肢带型肌肉萎缩症2d型有关。与肌肉萎缩性侧索硬化症，肢带型，常染色体隐性5型相关的基因是SGCG（肌糖原γ）。药物Pharmaceutical Solutions在这个疾病中被提及。相关的组织包括骨骼肌和肺，相关的表型是骨骼肌萎缩和1型肌肉纤维占优势。

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