Global Variome shared LOVD

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Phenotype #0000231615 Individual ID 00305769 Associated disease LGMD Phenotype details moderate (MRC grade 3-4/5); lower limbs more severe than upper limbs; distal weakness; spinal deformity; elevated serum CK (max. 4000 IU/L); biopsy dystrophic; lobulated fiber; rimmed vacuole; mitochondrial dysfunction; inflammation Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMDR1 Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset 18y Phenotype/Onset - Protein IHC DMD absent/reduced, SGC 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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