Global Variome shared LOVD

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Phenotype #0000362704 Individual ID 00478103 Associated disease LGMD Phenotype details see paper; ..., 55y-lost ambulation, no scapular winging Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR1 Age/Examination 55y (55 years) 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 2026-04-29 11:53:10 +02:00 (CEST) Date last edited N/A

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