Global Variome shared LOVD

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

Phenotype #0000161845 Individual ID 00213376 Associated disease CMS Phenotype details progessive weakness, fatigability, ptosis, respiratory decline Diagnosis/Initial myasthenic syndrome, congenital Inheritance Familial, autosomal recessive Diagnosis/Definite CMS-11 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein type 1 fiber predominance on muscle biopsy Owner name Tom Winder Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-11-20 16:56:41 +01:00 (CET) Date last edited 2013-01-26 17:55:17 +01:00 (CET)

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