Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 (LGMDR10)

Alias:
Muscular Dystrophy, Limb-Girdle, Type 2j
Lgmd2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Lgmdr10
Titin-Related Limb-Girdle Muscular Dystrophy R10
Dystrophy, Muscular, Limb-Girdle, Type 2j
Limb-Girdle Muscular Dystrophy Type 2j
Limb-Girdle Muscular Dystrophy 2j
Titin-Related Lgmd R10
Lgmd Type 2j
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10, also known as muscular dystrophy, limb-girdle, type 2j, is related to tibial muscular dystrophy, tardive and tibial muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 is TTN (Titin). Affiliated tissues include skeletal muscle and heart, and related phenotypes are elevated circulating creatine kinase concentration and proximal muscle weakness
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
22
147

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
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IF
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