Phenotype #0000125699

Individual ID 00152964
Associated disease CMS
Phenotype details generalised weakness (sparing extraocular muscles), prominent wasting/weakness finger extensor muscles, atrophy cervical muscles, developed respiratory problems (diaphragmatic weakness), deterioration occurred, no AChR antibodies, single nerve stimuli elicited repetitive compound muscle action potentials
Diagnosis/Initial syndrome, myasthenic, congenital, slow channel (SCCMS)
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 60y (60 years)
Age/Diagnosis -
Age/Onset 16y
Phenotype/Onset generalised weakness
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 2012-03-09 19:08:25 +01:00 (CET)

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