Global Variome shared LOVD

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Phenotype #0000351939 Individual ID 00466576 Associated disease LGMD Phenotype details see paper; ..., 56y-deceased (complication of respiratory insufficiency, sepsis); 26y-onset severe LGMD; elevated CPK (5000 U/L), EMG myopathic changes/muscle biopsy; rapidly progressive tetraparesis, respiratory insufficiency with tracheostomy, invasive ventilation Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR2 Age/Examination 56y (56 years) Age/Diagnosis - Age/Onset 26y 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 16:41:04 +02:00 (CEST)

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