Global Variome shared LOVD

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

Phenotype #0000359258 Individual ID 00474465 Associated disease MD Phenotype details ambulant; creatine kinase level (1336 U/L); wrongly diagnosed as psoriatic arthritis, then diagnosis changed to dermatomyositis Diagnosis/Initial Myoshi myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MMD1 Age/Examination 39y (39 years) Age/Diagnosis - Age/Onset 16y Phenotype/Onset exercise-related pain; joint pain and weakness with fine motor hand movement and knee-buckling Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-17 19:02:00 +01:00 (CET) Date last edited N/A

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