Global Variome shared LOVD

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Phenotype #0000351924 Individual ID 00466561 Associated disease LGMD Phenotype details see paper; ..., 30y-onset proximal progressive muscle weakness four limbs; mildly increased serum CK (500 U/L) ; EMG diffuse myopathic changes Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 30y 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 2025-09-11 16:30:53 +02:00 (CEST) Date last edited 2025-09-11 16:43:02 +02:00 (CEST)

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