Myasthenic Syndrome, Congenital, 16 (CMS16)

Alias:

Congenital Myasthenic Syndrome 16

Cms16

Myasthenic Syndrome, Congenital, Acetazolamide-Responsive

Myasthenic Syndrome, Congenital, Type 16, Acetazolamide-Responsive

Congenital Myasthenic Syndrome Acetazolamide-Responsive

Congenital Myasthenic Syndrome Due to Mutation in Scn4a

Congenital Myasthenic Syndrome Scn4a-Related

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myasthenic Syndrome, Congenital, 16, also known as congenital myasthenic syndrome 16, is related to congenital myopathy 22a, classic and normokalemic periodic paralysis. An important gene associated with Myasthenic Syndrome, Congenital, 16 is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4). Affiliated tissues include skeletal muscle, and related phenotypes are ptosis and gait disturbance

Related ID：

MALACARDS：MYS064

OMIM：614198

MESH：D020294