Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000359259 Individual ID 00474466 Associated disease MD Phenotype details ambulant; creatine kinase level (2099 U/L); s/p Ebstein anomaly repair Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR2 Age/Examination 34y (34 years) Age/Diagnosis - Age/Onset 25y Phenotype/Onset gradually progressive difficulty climbing stairs 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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