Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 (LGMDD4)

Alias:
Muscular Dystrophy, Limb-Girdle, Type 1i
Lgmdd4
Lgmd1i
Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4, also known as muscular dystrophy, limb-girdle, type 1i, is related to calpain-3-related limb-girdle muscular dystrophy d4 and muscular dystrophy, limb-girdle, autosomal recessive 1. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 is CAPN3 (Calpain 3). Affiliated tissues include skeletal muscle, and related phenotypes are gait disturbance and hyperlordosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
10
12

Medical Symptom

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

Gene & Mutation

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Mutations
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Related Drugs

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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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