Myasthenic Syndrome, Congenital, 7a, Presynaptic, and Distal Motor Neuropathy, Autosomal Dominant (CMS7A)

Alias:
Cms7a
Myasthenic Syndrome, Presynaptic, Congenital, with or Without Motor Neuropathy
Myasthenic Syndrome, Congenital, Type 7, Presynaptic
Congenital Myasthenic Syndrome 7
Myspc
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myasthenic Syndrome, Congenital, 7a, Presynaptic, and Distal Motor Neuropathy, Autosomal Dominant, also known as cms7a, is related to congenital myasthenic syndrome 7. An important gene associated with Myasthenic Syndrome, Congenital, 7a, Presynaptic, and Distal Motor Neuropathy, Autosomal Dominant is SYT2 (Synaptotagmin 2). Affiliated tissues include skeletal muscle.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
8
9

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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