Congenital Myopathy 23 (CMYP23)

Alias:
Nemaline Myopathy 4
Cap Myopathy 2
Nem4
Nemaline Myopathy 4, Autosomal Dominant
Tpm2-Related Nemaline Myopathy
Myopathy, Nemaline, Type 4
Nemaline Myopathy, Type 4
Cap Myopathy Tpm2-Related
Tpm2-Related Cap Myopathy
Cap Myopathy 2, Formerly
Capm2, Formerly
Cap Myopathy
Cap Disease
Cmyp23
Capm2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Myopathy 23, also known as nemaline myopathy 4, is related to distal arthrogryposis and cap myopathy, and has symptoms including waddling gait An important gene associated with Congenital Myopathy 23 is TPM2 (Tropomyosin 2). Affiliated tissues include skeletal muscle and prostate, and related phenotypes are neck muscle weakness and difficulty walking
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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6
27
18

Medical Symptom

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

Gene & Mutation

#
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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