Global Variome shared LOVD

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

Phenotype #0000231636 Individual ID 00305790 Associated disease LGMD Phenotype details mild (MRC grade ≥4/5); lower limbs more severe than upper limbs; elevated serum CK (max. 12479 IU/L); biopsy myopathic; 　 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMDR2 Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset 22y Phenotype/Onset - Protein IHC DYSF absent/reduced　 Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-02 12:45:49 +02:00 (CEST) Date last edited N/A

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