Myasthenic Syndrome, Congenital, 13 (CMS13)

Myasthenic Syndrome, Congenital, 13(来自ICD-11)

别称:

Congenital Myasthenic Syndrome 13

Cmsta2

Cms13

Myasthenic Syndrome, Congenital, with Tubular Aggregates 2

Myasthenic Syndrome, Congenital, with Tubular Aggregates, Type 2

Myasthenic Syndrome, Congenital, 13, with Tubular Aggregates

Myasthenic Syndrome, Congenital, with Tubular Aggregates, 2

Congenital Myasthenic Syndrome 13 with Tubular Aggregates

Congenital Myasthenic Syndrome with Tubular Aggregates 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myasthenic Syndrome, Congenital, 13, also known as congenital myasthenic syndrome 13, is related to congenital disorder of glycosylation, type ij and congenital myasthenic syndrome 7. An important gene associated with Myasthenic Syndrome, Congenital, 13 is DPAGT1 (Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1), and among its related pathways/superpathways are Acetylcholine binding and downstream events and ErbB2/ErbB3 signaling events. Affiliated tissues include skeletal muscle and brain, and related phenotypes are proximal muscle weakness and muscle fiber tubular inclusions

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