Global Variome shared LOVD

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Phenotype #0000125698 Individual ID 00152963 Associated disease CMS Phenotype details facial/neck/upper limb weakness, slight difficulty chewing/swallowing, eye movements normal, wasting forearm/hand muscles, no AChR antibodies, single nerve stimuli did not elicit repetitive compound muscle, action potentials Diagnosis/Initial syndrome, myasthenic, congenital, slow channel (SCCMS) Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 34y (34 years) Age/Diagnosis - Age/Onset 14y Phenotype/Onset lower limb weakness Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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