Phenotype #0000085904

Individual ID 00108310
Associated disease RMD2
Phenotype details CPK 12x
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 0y
Phenotype/Onset frequent falls, painful muscle stiffness + musclecramps, slow movements after rest
Protein IHC DMD normal, CAV3 near absent, DYSF partial
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 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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