Rippling Muscle Disease 2 (RMD2)

Alias:
Rippling Muscle Disease
Muscular Dystrophy, Limb-Girdle, Type 1c
Lgmd1c
Rmd2
Rmd
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly
Dystrophy, Muscular, Limb-Girdle, Type 1c
Limb-Girdle Muscular Dystrophy 1c
Disease, Muscle, Rippling, Type 2
Rippling Muscle Disease 1
Rippling Muscle Syndrome
Lgmd1c, Formerly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Rippling Muscle Disease 2, also known as rippling muscle disease, is related to myopathy, distal, tateyama type and myopathy, and has symptoms including exercise-induced myalgia, muscle cramp and myalgia. An important gene associated with Rippling Muscle Disease 2 is CAV3 (Caveolin 3), and among its related pathways/superpathways are Remodeling of Adherens Junctions and Ebola virus infection in host. Affiliated tissues include skeletal muscle and heart, and related phenotypes are elevated circulating creatine kinase concentration and gowers sign
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Child
--
21
175
29

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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