Limb-Girdle Muscular Dystrophy (LGMD)

Alias:
Lgmd
Muscular Dystrophies, Limb-Girdle
Lgmd - [limb-Girdle Muscular Dystrophy]
Dystrophy, Muscular, Limb-Girdle
Leyden-Mbius Muscular Dystrophy
Limb Girdle Muscular Dystrophy
Myopathic Limb-Girdle Syndrome
Muscular Dystrophy Limb-Girdle
Limb Girdle Muscle Dystrophy
Erb's Muscular Dystrophy
Limb-Girdle Syndrome
Limb-Girdle Myopathy
Limb Girdle
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Limb-Girdle Muscular Dystrophy, also known as lgmd, is related to muscular dystrophy, limb-girdle, autosomal dominant 1 and autosomal recessive limb-girdle muscular dystrophy type 2a. An important gene associated with Limb-Girdle Muscular Dystrophy is CAPN3 (Calpain 3), and among its related pathways/superpathways are Cardiac conduction and DREAM Repression and Dynorphin Expression. The drugs (3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium and Lisinopril have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related phenotypes are muscle and homeostasis/metabolism
Related ID:
MESH:D049288
ICD11:887807212

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
All ages
1-9/100000
81
660
29

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Mutations
No data available

Related Drugs

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CAS Number
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Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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