Global Variome shared LOVD

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

Phenotype #0000209376 Individual ID 00274433 Associated disease MD Phenotype details proximal muscle weakness and ankle contracture; muscle myopathic pattern; elevated CK (361 IU/L); ECG or echo normal; no family history Diagnosis/Initial Bethlem myopathy Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis 02y Age/Onset 01y06m 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 2019-12-30 09:59:36 +01:00 (CET) Date last edited 2019-12-30 10:32:41 +01:00 (CET)

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