Nemaline Myopathy 7 (NEM7)

Alias:
Nemaline Myopathy 7, Autosomal Recessive
Nem7
Cfl2-Related Nemaline Myopathy
Myopathy, Nemaline, Type 7
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nemaline Myopathy 7, is also known as nem7. An important gene associated with Nemaline Myopathy 7 is CFL2 (Cofilin 2), and among its related pathways/superpathways are ADORA2B mediated anti-inflammatory cytokines production and CREB Pathway. Affiliated tissues include skeletal muscle, and related phenotypes are hypotonia and muscle weakness
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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8
36
5

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

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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