Myasthenic Syndrome, Congenital, 8 (CMS8)

Alias:

Congenital Myasthenic Syndrome 8

Myasthenic Syndrome, Congenital, with Pre- and Postsynaptic Defects

Cms8

Myasthenic Syndrome, Congenital, 8, with Pre- and Postsynaptic Defects

Congenital Myasthenic Syndrome Due to Agrin Deficiency

Cmsppd

Myasthenic Syndrome, Congenital, Type 8, with Pre- and Postsynaptic Defects

Congenital Myasthenic Syndrome 8 with Pre- and Postsynaptic Defects

Myasthenic Syndrome, Congenital, Due to Agrin Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myasthenic Syndrome, Congenital, 8, also known as congenital myasthenic syndrome 8, is related to vitreoretinal degeneration, snowflake type and seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance, and has symptoms including facial paresis An important gene associated with Myasthenic Syndrome, Congenital, 8 is AGRN (Agrin), and among its related pathways/superpathways are Cardiac conduction and Potassium Channels. Affiliated tissues include skeletal muscle, and related phenotypes are high palate and respiratory insufficiency

Related ID：

MALACARDS：MYS076

OMIM：615120

MESH：D020294