Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 (LGMDD2)

Alias:
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Muscular Dystrophy, Limb-Girdle, Type 1f
Lgmd1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2
Lgmdd2
Tnp03-Related Limb-Girdle Muscular Dystrophy D2
Dystrophy, Muscular, Limb-Girdle, Type 1f
Muscular Dystrophy Limb-Girdle Type 1f
Limb-Girdle Muscular Dystrophy Type 1f
Limb-Girdle Muscular Dystrophy 1f
Lgmd Type 1f
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2, also known as autosomal dominant limb-girdle muscular dystrophy type 1f, is related to myopathy, myofibrillar, 3 and autosomal dominant limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 is TNPO3 (Transportin 3), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Acute viral myocarditis. Affiliated tissues include skeletal muscle, and related phenotypes are pelvic girdle muscle weakness and shoulder girdle muscle weakness
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
<1/1000000
13
114
7

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
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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