Global Variome shared LOVD

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

Phenotype #0000318034 Individual ID 00426896 Associated disease myalgia Phenotype details exercise-related myalgia and muscle cramps, fatigue; no myoglobinuria, no rhabdomyolysis, no motor delay; normal strength, abnormal attention span and hyperactivity; no calf hypertrophy, no Gower sign; elevated CK (1252 - 2722 U/L) Diagnosis/Initial myalgia Inheritance Unknown Diagnosis/Definite - Age/Examination 03y (3 years) Age/Onset 02y Phenotype/Onset elevated liver function tests 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 09:21:41 +01:00 (CET) Date last edited N/A

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