Muscular Dystrophy, Congenital, with or Without Seizures (MYOS)

Alias:
Myos
Myo
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muscular Dystrophy, Congenital, with or Without Seizures, also known as myos, is related to myoclonus epilepsy and myopathy. An important gene associated with Muscular Dystrophy, Congenital, with or Without Seizures is GOSR2 (Golgi SNAP Receptor Complex Member 2). Affiliated tissues include brain and eye, and related phenotypes are nystagmus and hypotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
7
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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Gene
Function
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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