Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000125725 Individual ID 00152991 Associated disease CMS Phenotype details generalised weakness (sparing extraocular muscles), prominent wasting/weakness finger extensor muscles, deterioration months after pregnancy, no AChR antibodies AChR, single nerve stimuli elicited repetitive compound muscle action potentials; age onset infancy Diagnosis/Initial syndrome, myasthenic, congenital, slow channel (SCCMS) Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 41y (41 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - 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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