Global Variome shared LOVD

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Phenotype #0000159814 Individual ID 00211332 Associated disease CMS Phenotype details developmental milestones normal, fatiguable weakness, difficulty running, frequent falls, fatiguable ptosis bilateral, RNS abnormal neuromuscular transmission; walk-18m Diagnosis/Initial myasthenic syndrome, congenital Inheritance Isolated (sporadic) Diagnosis/Definite CMS-10 Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset stridor, feeding difficulties Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-07-08 11:53:08 +02:00 (CEST) Date last edited 2017-03-31 14:13:45 +02:00 (CEST)

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