Global Variome shared LOVD

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Phenotype #0000359974 Individual ID 00475299 Associated disease LGMD Phenotype details high CK (2000 U/L), proximal weakness, difficulty climbing Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR1 Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset 12y 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 2026-04-08 11:52:46 +02:00 (CEST) Date last edited N/A

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