Postsynaptic Congenital Myasthenic Syndromes

Alias:
Congenital Myasthenic Syndromes, Postsynaptic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Postsynaptic Congenital Myasthenic Syndromes, also known as congenital myasthenic syndromes, postsynaptic, is related to presynaptic congenital myasthenic syndromes and myasthenic syndrome, congenital, 19. An important gene associated with Postsynaptic Congenital Myasthenic Syndromes is RAPSN (Receptor Associated Protein Of The Synapse), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Extracellular matrix organization. Affiliated tissues include eye and skeletal muscle, and related phenotypes are abnormality of eye movement and ptosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
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12
94
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Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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