Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 (LGMDR18)

Alias:
Lgmd2s
Muscular Dystrophy, Limb-Girdle, Type 2s
Lgmdr18
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 18
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type R18
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-Girdle Muscular Dystrophy Type 2s
Limb-Girdle Muscular Dystrophy 2s
Trappc11-Related Lgmd R18
Lgmd Type 2s
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18, also known as lgmd2s, is related to muscular dystrophy, limb-girdle, autosomal recessive 2 and muscular dystrophy, limb-girdle, autosomal recessive 1. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 is TRAPPC11 (Trafficking Protein Particle Complex Subunit 11). Affiliated tissues include skeletal muscle and liver, and related phenotypes are hyperlordosis and cataract
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
1
3
12

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

Title
PMID
Journal
Year
IF
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