Global Variome shared LOVD

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

Phenotype #0000353043 Individual ID 00467891 Associated disease LGMD Phenotype details leg weakness, calf hypertrophy, respiratory failure, serum CK level 515 UI/L Diagnosis/Initial sarcoglycanopathy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR5 Age/Examination 25y (25 years) Age/Diagnosis 1y Age/Onset 6y 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 2025-11-02 20:50:54 +01:00 (CET) Date last edited N/A

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