Global Variome shared LOVD

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

Phenotype #0000085881 Individual ID 00108287 Associated disease RMD2 Phenotype details bilateral hypertrophy calves, reduced deep tendon reflexes, EMG diffuse myopathic; CPK 7x Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 14y Phenotype/Onset fatigue, muscle rigidity Protein IHC DMD normal, CAV3 reduced/absent Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-12-02 22:20:40 +01:00 (CET) Date last edited 2019-08-02 19:40:52 +02:00 (CEST)

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