Global Variome shared LOVD

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

Phenotype #0000125876 Individual ID 00153171 Associated disease CMS Phenotype details ptosis, limited eye movements, mild facial/limb weakness; 36y-marked bilateral ptosis, severe bilateral reduction eye abduction, fatigable weakness (more proximal then distal limb muscles); age onset early childhood Diagnosis/Initial syndrome, myasthenic, congenital Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 36y (36 years) Age/Diagnosis - Age/Onset - Phenotype/Onset myasthenic symptoms Protein no AChR antibodies Owner name Angela Abicht Database submission license No license selected Created by Angela Abicht Date created 2011-12-29 17:55:05 +01:00 (CET) Date last edited 2012-03-09 18:26:59 +01:00 (CET)

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