Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b (LGMD3)

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b(来自ICD-11)
别称:
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency
Lgmd2b
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Limb-Girdle Muscular Dystrophy Type 2b
Lgmd Due to Dysferlin Deficiency
Dysferlin-Related Lgmd R2
Lgmd Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2b
Limb-Girdle Muscular Dystrophy Type 3
Lgmd3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b, also known as limb-girdle muscular dystrophy due to dysferlin deficiency, is related to muscular dystrophy, limb-girdle, autosomal dominant 3 and myositis. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b is DYSF (Dysferlin), and among its related pathways/superpathways are Cardiac conduction and DREAM Repression and Dynorphin Expression. The drugs Deflazacort and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and monocytes, and related phenotypes are elevated circulating creatine kinase concentration and proximal muscle weakness in lower limbs
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基础信息

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参考文献
MALACARDS
--
Unknown
1-9/1000000
28
272
89

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