Global Variome shared LOVD

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

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 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)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.