Phenotype #0000125700

Individual ID 00152965
Associated disease CMS
Phenotype details see paper; ..., very extensive over 40 years; generalized myasthenic weakness, mild hand muscle wasting, no AChR antibodies, reacted adversely to anticholinesterase drugs; EMG repetitive muscle response single nerve stimulus
Diagnosis/Initial syndrome, myasthenic, congenital, slow channel (SCCMS)
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 66y (66 years)
Age/Diagnosis -
Age/Onset 23y
Phenotype/Onset arm weakness during pregnancy
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-02-13 11:22:31 +01:00 (CET)
Date last edited 2022-07-07 15:34:59 +02:00 (CEST)

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