Distal Nebulin Myopathy

Alias:
Nebulin-Related Early-Onset Distal Myopathy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Distal Nebulin Myopathy, is also known as nebulin-related early-onset distal myopathy. An important gene associated with Distal Nebulin Myopathy is NEB (Nebulin). Affiliated tissues include skeletal muscle, and related phenotypes are high palate and emg: myopathic abnormalities
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Infant
<1/1000000
1
11
--

Medical Symptom

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

Gene & Mutation

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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
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IF
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