Global Variome shared LOVD

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Phenotype #0000351938 Individual ID 00466575 Associated disease LGMD Phenotype details see paper; ..., 20y-onset severe LGMD; 42y-loss ambulation; respiratory insufficiency, 48y-ventilatory dependence Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR1 Age/Examination - Age/Diagnosis - Age/Onset 20y 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 16:33:33 +02:00 (CEST)

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