Global Variome shared LOVD

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

Phenotype #0000358118 Individual ID 00473323 Associated disease MYOP Diagnosis/Initial metabolic myopathy Diagnosis/Definite - Phenotype details Sporadic case, onset 18y , muscle weakness, muscle cramps and pain, elevated CPK and exercise intolerance Inheritance Unknown Age/Examination 44y (44 years) 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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