Global Variome shared LOVD

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Phenotype #0000085876 Individual ID 00108282 Associated disease RMD2 Phenotype details blepharoptosis, extraocular muscle paresis; CPK 729 Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis 37y Age/Onset 9y Phenotype/Onset calf muscle hypertrophy, cramps after running, rolling contraction after sudden stretching femoral muscle Protein IHC no CAV3 Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-10-21 17:38:11 +02:00 (CEST) Date last edited 2019-08-02 19:40:52 +02:00 (CEST)

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