Global Variome shared LOVD

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Phenotype #0000231675 Individual ID 00305829 Associated disease LGMD Phenotype details moderate (MRC grade 3-4/5); lower limbs more severe than upper limbs; neck flexor weakness (HP:0003722); elevated serum CK (max. 7256 IU/L); biopsy dystrophic; rimmed vacuole; mitochondrial dysfunction; inflammation Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMDR2 Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset 21y 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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