Global Variome shared LOVD

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

Phenotype #0000085791 Individual ID 00108197 Associated disease RMD2 Phenotype details severe permanent muscle stiffness, rippling, PIRC, delayed motor milestones, contractures Achilles tendon, no cardiomyopathy, normal height; CPK 1500-5000 Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 3y Phenotype/Onset sever musle stiffness Protein CAV3 IHC and WB strongly reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2003-01-18 17:03:34 +01:00 (CET) Date last edited 2019-08-02 19:40:52 +02:00 (CEST)

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