Rigid Spine Muscular Dystrophy (RSMD)

Alias:
Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity
Congenital Muscular Dystrophy with Spine Rigidity Syndrome
Rigid Spine Congenital Muscular Dystrophy
Dystrophy, Muscular, Rigid Spine
Rigid Spinal Muscular Dystrophy
Rsmd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Rigid Spine Muscular Dystrophy, also known as muscular dystrophy, congenital, merosin-positive, with early spine rigidity, is related to congenital myopathy 3 with rigid spine and muscular dystrophy. An important gene associated with Rigid Spine Muscular Dystrophy is SELENON (Selenoprotein N). Affiliated tissues include thymus and kidney.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
6
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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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