Global Variome shared LOVD

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Phenotype #0000359250 Individual ID 00474457 Associated disease MD Phenotype details ambulant; creatine kinase level (1000 0 U/L); asymmetric; marked intrafamilial variability Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR2 Age/Examination 34y (34 years) Age/Diagnosis - Age/Onset 17y Phenotype/Onset difficulties in getting from a chair Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-17 19:02:00 +01:00 (CET) Date last edited N/A

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