Phenotype #0000085922

Individual ID 00108328
Associated disease RMD2
Phenotype details rippling, no PIRCs, weakness proximal upper & lower limbs, hypertrophy, pain, EMG mild myopathic, sponteneous activities, biopsy myopathic changes; CPK 1856
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 30y
Phenotype/Onset pain
Protein IHC/WB CAV3 absent, IHC beta-spectrin weak & patchy
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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