Global Variome shared LOVD

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

Phenotype #0000085932 Individual ID 00108338 Associated disease RMD2 Phenotype details rippling, PIRCs, no weakness, mild hypertrophy, pain, EMG chronic myopathy dystrophic features,; CPK 1754 Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <7y Phenotype/Onset tip toe walking & large calves Protein IHC CAV3 normal Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-09-29 23:21:03 +02:00 (CEST) Date last edited 2019-08-02 19:40:52 +02:00 (CEST)

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