Global Variome shared LOVD

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Phenotype #0000359287 Individual ID 00474494 Associated disease MD Phenotype details ambulant with aid; creatine kinase level (8496 U/L); hypertrophied deltoid muscle Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset 20y Phenotype/Onset limping and recurrent fall 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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