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Nemaline Myopathy 11 (NEM11)

Alias:
Nemaline Myopathy 11, Autosomal Recessive
Nem11
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nemaline Myopathy 11, also known as nem11, is related to congenital myopathy 24 and distal hereditary motor neuronopathy type 2b. An important gene associated with Nemaline Myopathy 11 is MYPN (Myopalladin), and among its related pathways/superpathways are O-linked glycosylation of mucins and Defective DPM3 causes DPM3-CDG. Related phenotypes are muscle and mortality/aging
Related ID：
MALACARDS：NML023

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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11
45
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NML023

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

Name
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
Year
IF
No Data Found!
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