Phenotype #0000085881

Individual ID 00108287
Associated disease RMD2
Phenotype details bilateral hypertrophy calves, reduced deep tendon reflexes, EMG diffuse myopathic; CPK 7x
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 14y
Phenotype/Onset fatigue, muscle rigidity
Protein IHC DMD normal, CAV3 reduced/absent
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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