Global Variome shared LOVD

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

Phenotype #0000085950 Individual ID 00108356 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details rippling muscle disease; CMD; diffuse muscular hypertrophy, mild weakness orbicularis eyelids, EKG normal, echocardiogram mild left ventricular enlargement, mechanical percussion muscle bellies induces transient local mounding and rapid muscle contractions; CPK 877 Inheritance Familial Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset generalized fatigue Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-11-06 17:47:17 +01:00 (CET) Date last edited 2012-03-04 15:56:03 +01:00 (CET)

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