Myasthenic Syndrome, Congenital, 6, Presynaptic (CMS6)

Alias:

Familial Infantile Myasthenia

Cmsea

Cms6

Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

Familial Infantile Myasthenia Gravis 2

Congenital Myasthenic Syndrome 6

Fimg2

Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea

Congenital Myasthenic Syndrome Pre-Synaptic Associated with Episodic Apnea

Congenital Presynaptic Myasthenic Syndrome Associated with Episodic Apnea

Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Myasthenia Gravis, Familial Infantile, 2, Formerly

Congenital Myasthenic Syndrome Type Ia2, Formerly

Congenital Myasthenic Syndrome 6, Presynaptic

Myasthenia, Familial Infantile, Formerly

Congenital Myasthenic Syndrome Type Ia2

Congenital Myasthenic Syndrome Type 1a

Congenital Myasthenic Syndrome Type Ia

Cms Ia2, Formerly

Cms1a2, Formerly

Fimg2, Formerly

Fim, Formerly

Cms Ia2

Cms1a2

Cms-Ea

Cms Ia

Cms1a

Fim

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myasthenic Syndrome, Congenital, 6, Presynaptic, also known as familial infantile myasthenia, is related to myasthenic syndrome, congenital, 12 and myasthenic syndrome, congenital, 1a, slow-channel, and has symptoms including apnea, respiratory distress and ophthalmoparesis. An important gene associated with Myasthenic Syndrome, Congenital, 6, Presynaptic is CHAT (Choline O-Acetyltransferase), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neurotransmitter release cycle. Affiliated tissues include skeletal muscle, and related phenotypes are fatigable weakness and bulbar palsy

Related ID：

MALACARDS：MYS055

OMIM：254210

MESH：D020294