Global Variome shared LOVD

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Phenotype #0000172207 Individual ID 00228255 Associated disease RMD2 Phenotype details I2-78y-fatigability, myalgia, stiffness, percussion-induced muscle mounding, no stressed percussion-induced rapid contraction, no rippling, elevated CK (244): II1-47y-fatigability, myalgia, stiffness, percussion-induced muscle mounding, no stressed percussion-induced rapid contraction, rippling, calf hypertrophy, elevated CK (475) Diagnosis/Initial rippling muscle disease Inheritance Familial, autosomal dominant Diagnosis/Definite RMD Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-03-22 15:13:10 +01:00 (CET) Date last edited N/A

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