Nemaline Myopathy (NM)

Alias:
Rod Myopathy
Nemaline Body Disease
Nemaline Rod Myopathy
Myopathies, Nemaline
Myopathy, Nemaline
Rod Body Disease
Nem
Nm
Nemaline Rod Disease
Myopathies Nemaline
Rod-Body Myopathy
Nemaline Bodies
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nemaline Myopathy, also known as rod myopathy, is related to nemaline myopathy 8 and nemaline myopathy 2. An important gene associated with Nemaline Myopathy is NEB (Nebulin), and among its related pathways/superpathways are Cell differentiation - expanded index and Striated muscle contraction pathway. The drugs D-Tyrosine and Salbutamol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and heart.
Related ID:
MESH:D017696
ICD11:1996502540

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
All ages
1-9/100000
8
48
49

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
No Data Found!
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