Global Variome shared LOVD

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Phenotype #0000362745 Individual ID 00478225 Associated disease - Phenotype details juvenile-onset slowly progressive myopathy, limb-girdle weakness Diagnosis/Initial respiratory chain deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR1 Age/Examination 17y (17 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 2026-05-04 14:23:03 +02:00 (CEST) Date last edited N/A

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