Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 (LGMDR21)

Alias:
Lgmd2z
Muscular Dystrophy, Limb-Girdle, Type 2z
Lgmdr21
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r1
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Dystrophy, Muscular, Limb-Girdle, Recessive, Type 21
Poglut1-Related Limb-Girdle Muscular Dystrophy R21
Limb-Girdle Muscular Dystrophy Type 2z
Limb-Girdle Muscular Dystrophy 2z
Poglut1-Related Lgmd R21
Lgmd Type 2z
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21, also known as lgmd2z, is related to autosomal recessive limb-girdle muscular dystrophy type 2z and autosomal recessive limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 is POGLUT1 (Protein O-Glucosyltransferase 1). Affiliated tissues include skeletal muscle, and related phenotypes are limb-girdle muscular dystrophy and scapular winging
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
<1/1000000
1
10
3

Medical Symptom

#
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

Name
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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