Global Variome shared LOVD

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Phenotype #0000359247 Individual ID 00474454 Associated disease MD Phenotype details 29y-wheelchair; creatine kinase level (1868 U/L); marked intrafamilial variability Diagnosis/Initial proximodistal muscle weakness Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR2 Age/Examination 48y (48 years) Age/Diagnosis - Age/Onset 22y Phenotype/Onset exercise-related pain and mild proximal weakness 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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