Phenotype #0000085792

Individual ID 00108198
Associated disease RMD2
Phenotype details suspected myositis, no muscle wasting, symmetric weakness (4/5 MRC) neck flexors/shoulder/proximal arm muscles/hip flexors/adductors, voluntary contraction and taps quadriceps provoked rippling muscle surface, muscle percussion evoked mounding/PIRCs; episode of atrial fibrillation, paroxysmal tachyarrhythmia (successfully treated with electrical cardioversion); CPK 1526
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 26y
Phenotype/Onset muscle pain, weakness, stiffness
Protein CAV3 IHC and WB strongly reduced
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 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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