Global Variome shared LOVD

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

Phenotype #0000318033 Individual ID 00426895 Associated disease myalgia Phenotype details myalgia, muscle cramping after exercise, easy bruising; active, playing 2 sports, difficulty releasing baseball when throwing in cold; 11y-no muscle weakness, no rhabdomyolysis, no myoglobinuria, normal neurologic and physical examinations, normal development, normal developmental milestones; elevated CK (818 - 2500 U/L); 7y-muscle biopsy mild variation muscle fiber size Diagnosis/Initial myalgia, muscle cramping Inheritance Familial, X-linked recessive Diagnosis/Definite BMD Age/Examination 09y (9 years) 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 2022-12-03 09:16:17 +01:00 (CET) Date last edited N/A

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