Global Variome shared LOVD

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Phenotype #0000362874 Individual ID 00478357 Associated disease LGMD Phenotype details see paper; ..., wheelchair boundclassical pelvifemoral Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR1 Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset 14y 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 2026-05-05 08:47:13 +02:00 (CEST) Date last edited N/A

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